As already mentioned, the labyrinth fluid and the main membrane belong to the sound-conducting apparatus. However, isolated diseases of the labyrinthine fluid or the main membrane almost never occur, and are usually accompanied by a disturbance in the function of the organ of Corti; therefore, almost all diseases of the inner ear can be attributed to damage to the sound-receiving apparatus.

Defects and damage to the inner ear. TO Birth defects include developmental anomalies of the inner ear, which can be different. There have been cases of complete absence of the labyrinth or underdevelopment of its individual parts. In most congenital defects of the inner ear, underdevelopment of the organ of Corti is noted, and it is the specific terminal apparatus of the auditory nerve - the hair cells - that is undeveloped. In these cases, in place of the organ of Corti, a tubercle is formed, consisting of nonspecific epithelial cells, and sometimes this tubercle does not exist and the main membrane turns out to be completely smooth. In some cases, underdevelopment of hair cells is observed only in certain areas of the organ of Corti, and throughout the rest of the area it suffers relatively little. In such cases, the auditory function in the form of hearing islands may be partially preserved.

In the occurrence of congenital defects in the development of the auditory organ, all kinds of factors that disrupt the normal course of development of the embryo are important. These factors include pathological effects on the fetus from the mother’s body (intoxication, infection, injury to the fetus). Hereditary predisposition may also play a role.

Damage to the inner ear, which sometimes occurs during childbirth, should be distinguished from congenital developmental defects. Such injuries may result from compression of the fetal head by the narrow birth canal or as a consequence of the application of obstetric forceps during pathological childbirth.

Injuries to the inner ear are sometimes observed in young children due to head injuries (falls from a height); in this case, hemorrhages into the labyrinth and displacement of individual sections of its contents are observed. Sometimes in these cases, both the middle ear and the auditory nerve can be damaged at the same time. The degree of impairment of hearing function due to injuries of the inner ear depends on the extent of the damage and can vary from partial hearing loss in one ear to complete bilateral deafness.

Inflammation of the inner ear (labyrinthitis) occurs in three ways: 1) due to the transition of the inflammatory process from the middle ear; 2) due to the spread of inflammation from the meninges and 3) due to the introduction of infection through the bloodstream (in general infectious diseases).

With purulent inflammation of the middle ear, the infection can enter the inner ear through the round or oval window as a result of damage to their membranous formations (secondary tympanic membrane or annular ligament). In chronic purulent otitis, the infection can spread to the inner ear through the bone wall destroyed by the inflammatory process, separating the tympanic cavity from the labyrinth.

From the side of the meninges, the infection enters the labyrinth usually through the internal auditory canal along the auditory nerve sheaths. This type of labyrinthitis is called meningogenic and is most often observed in early childhood with epidemic cerebrospinal meningitis (purulent inflammation of the meninges). It is necessary to distinguish cerebrospinal meningitis from meningitis of ear origin, or so-called otogenic meningitis. The first is an acute infectious disease and gives frequent complications in the form of damage to the inner ear, and the second itself is a complication of purulent inflammation of the middle or inner ear.

According to the degree of prevalence of the inflammatory process, diffuse (spread) and limited labyrinthitis are distinguished. As a result of diffuse purulent labyrinthitis, the organ of Corti dies and the cochlea is filled with fibrous connective tissue.

With limited labyrinthitis, the purulent process does not involve the entire cochlea, but only part of it, sometimes only one curl or even part of a curl.

In some cases, with inflammation of the middle ear and meningitis, it is not the microbes themselves that penetrate into the labyrinth, but their toxins (poisons). The inflammatory process that develops in these cases occurs without suppuration (serous labyrinthitis) and usually does not lead to the death of the nerve elements of the inner ear.

Therefore, after serous labyrinthitis, complete deafness usually does not occur, but a significant decrease in hearing is often observed due to the formation of scars and adhesions in the inner ear.

Diffuse purulent labyrinthitis leads to complete deafness; the result of limited labyrinthitis is partial hearing loss for certain tones, depending on the location of the lesion in the cochlea. Since the dead nerve cells of the organ of Corti are not restored, deafness, complete or partial, that occurs after purulent labyrinthitis is persistent.

In cases where the vestibular part of the inner ear is also involved in the inflammatory process during labyrinthitis, in addition to impaired auditory function, symptoms of damage to the vestibular apparatus are also noted: dizziness, nausea, vomiting, loss of balance. These phenomena gradually subside. With serous labyrinthitis, the vestibular function is restored to one degree or another, and with purulent labyrinthitis, as a result of the death of receptor cells, the function of the vestibular analyzer completely disappears, and therefore the patient is left with uncertainty in walking for a long time or forever, and a slight imbalance.

Unfortunately, in life, sometimes it happens that the development of the body, for some reason, does not proceed quite correctly, which ultimately results in various congenital pathologies.

Microtia and atresia of the ear

One example of this is ear microtia. It is not at all difficult to understand what exactly this term means: the prefix “micro” indicates something small, and “from” indicates that it concerns the ear. So, microtia is not something small, but “from” indicates that it concerns the ear. So, microtia is the incomplete development (even the absence) of the auricle.

This feature is relatively rare. According to statistics, it occurs in one person for every 6-10 thousand of the population. The study of this condition shows that most often it is one-sided, and predominantly the right ear does not fully develop.

Also, medical literature emphasizes that microtia of the auricle is not the result of a woman’s poor lifestyle during pregnancy. No matter how “badly” the expectant mother behaves (drinking alcohol, exposure, etc.), this does not lead to the development of the described condition.

Causes of microtia development

The reasons leading to the development of the described phenomenon still remain unexplored.

Quite a lot of theories about the occurrence of the defect have been put forward. In particular, damage to blood vessels, rubella disease, and the use of Thalidomide during pregnancy were cited as the causes of ear underdevelopment. However, none of these hypotheses has had sufficient scientific confirmation.

Consideration of the “genetic” component of this issue showed that the factor of heredity may play a role in the appearance of defects in the development of the hearing organ, but is by no means decisive.

Also, medical literature emphasizes that microtia of the auricle is not the result of a woman’s poor lifestyle during pregnancy. No matter how “badly” the expectant mother behaves (drinking alcohol, smoking, exposure to stress, etc.), this does not lead to the development of the described condition.

Degrees of ear microtia

Based on the condition of both the auricle as a whole and individual segments of this anatomical structure, it is customary in medicine to distinguish several degrees of the defect in question.

The first degree is characterized by a slight reduction in the ear. There is an auditory canal, but it is somewhat narrower than is usually normal.

With the second degree of defect, a person has a partially underdeveloped ear concha. As for the external auditory canal, in this case it is either absent altogether or has a very narrow lumen. With this degree of the disease, partial hearing loss is already noted.

Microtia of the auricles of the third degree is distinguished by the fact that the auricle, in fact, has the appearance of the rudiment of a normal ear, in other words, it is rudimentary. The outer part of the ear canal is completely absent.

Underdevelopment of the ear of the fourth degree is called “anotia”. This term refers to the case when a person does not have an auricle at all.

It should be noted that the second ear with the described disease, as a rule, develops and functions normally. However, it is necessary to constantly monitor the growth and functioning of a healthy organ. This measure is necessary to timely prevent the occurrence of bilateral hearing loss.

Below you can see what ear microtia looks like in the photo:

Auricular reconstruction surgery for microtia

Today, the only, but quite effective, option for eliminating ear developmental defects is surgical intervention. However, it is worth immediately noting that with microtia of the auricle, surgery solves mostly the aesthetic part of the problem.

The procedure is complex and multi-stage. Its duration can be up to one and a half years or more. But as a result, partial or complete reconstruction of the auricle can be achieved.

This treatment may be performed by specialists such as a plastic surgeon, reconstructive surgeon, or ENT surgeon.

Photos of microtia before and after surgery can be seen below:

Usually the operation includes 4 stages. First, the frame of the future ear is formed. Materials can be different: donor cartilage, polyacrylic, silicone, etc. In this case, implants made from the patient’s own tissue (part of a rib or an ear that is not affected by a defect) are considered the best.

At the second stage a special pocket is created under the skin, into which the prepared frame is then placed. The latter takes root within six months.

Third stage involves creating the base of the auricle and giving it the necessary anatomical position.

At the last, fourth stage The auricle is finally recreated, and the tragus is reconstructed using an implant made of skin and cartilage (from the unaffected ear). This process takes about 4-6 months.

In addition to the creation of the auricle, surgical treatment of the condition in question also involves preserving hearing. Therefore, if it is possible to create a functioning ear canal, then in patients diagnosed with microtia, surgery to reconstruct the concha of the ear fades into the background.

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Microtia is underdevelopment of the auricle and other structures of the outer, middle, and sometimes inner ear. The anomaly occurs quite rarely, on average 1 time in 8-10 thousand newborns. In most cases, only 1 ear is underdeveloped, usually the right one.

Classification

Pathology can be of varying degrees of severity:

• 1st degree: the auditory canal may be of normal size or narrowed, the auricle is reduced in size, and some of its elements, such as the tragus or antitragus, may be missing;
• 2nd degree: the auditory canal is narrowed or completely absent, the auricle is underdeveloped, deformed;
• 3rd degree: usually the ear canal is closed, and in place of the auricle there is a fold of skin devoid of cartilage;
• 4th degree: the outer ear is completely absent.

Hearing impairment

In itself, underdevelopment of the auricle and ear canal does not say anything about the condition of the middle and inner ear. These two sections may be developed correctly, or they may be underdeveloped or partially absent. For example, when the ear canal is completely closed, the eardrum may be absent.

In order to establish the condition of the middle and inner ear, an MRI is performed, and to determine the degree of hearing impairment, the child is examined by a doctor who conducts special tests.

If the ear canal is closed and the middle and inner ear are completely intact, hearing may be reduced. So-called conductive hearing loss develops.

If the middle or inner ear is underdeveloped, hearing may be completely absent.

On the part of the healthy ear, hearing is completely preserved in the vast majority of cases. Therefore, children with unilateral microtia usually do not need to wear a hearing aid and there is no risk of impaired speech development.

Reasons for development

Photo: auditory nerve

To date, there is no consensus as to why microtia of the auricle develops. There are several theories that can explain the appearance of an anomaly in certain cases. Here are the main ones.

• Genetic defect.

In some cases, microtia occurs as one of the symptoms of a number of genetic syndromes. In this case, not only the ear is underdeveloped, but also the upper and lower jaw, and the soft tissues of the face. In some cases, microtia can be combined with cleft lip and palate (“cleft lip” and “cleft palate”).

• A viral infection acquired by the mother during pregnancy.

It is believed that the rubella virus can cause birth defects in the fetus, including underdevelopment of ear structures.

• Taking medications by the mother during pregnancy.

In particular, the development of microtia in a child can be caused by the drug thalidomide. It has been precisely established that the appearance of the defect cannot be affected by smoking, drinking alcohol, or the mother’s poor lifestyle during pregnancy.

Is it inherited?

If a person has underdevelopment of the structures of the ear and auricle, and there are no other structural features of the facial skull and intellectual development, then there is no need to be afraid of passing it on to the child.

Treatment

Treatment has two main goals:

• restoration of hearing, if necessary;
• elimination of a cosmetic defect.

Typically, hearing restoration is necessary in the case of bilateral occlusion of the ear canal or with unilateral microtia and progressive hearing loss in the second ear.

To restore hearing in case of conductive hearing loss, the following can be used:

• surgery to restore patency of the ear canal;
• a hearing aid that conducts sound through bone.

The operation can be performed when part of the ear canal is preserved, but ends blindly. It is desirable that the eardrum be preserved. But in childhood, surgery does not always give satisfactory results: the formed ear canal can shift as the tissue grows, and sometimes close completely again.

Therefore, hearing aids are more often used, which enhance sound transmission through the temporal bone.

Restoration of the auricle

To eliminate a cosmetic defect, which is the absence or underdevelopment of the auricle, the following can be used:

• ear prosthesis;
• plastic surgery aimed at recreating the auricle.

Making a prosthesis

Photo: metal ear implant

The ear has a three-dimensional structure, which makes the work of a plastic surgeon more difficult. As a rule, it is not possible to create the most natural-shaped ear in one go. Therefore, one of the options for eliminating a cosmetic defect is the use of facial prostheses. And if previously dentures were attached with glue and could not provide an acceptable aesthetic effect, now the VistaFix TM system has been developed and is being used. The method is based on the use of titanium pins that are attached directly to the bones of the skull.

The operation to install metal implants is technically simple and does not take much time. The implants themselves are small in size, but their design is such that they can securely hold the prosthesis in place.

Once the bone implants have healed, external supports are placed on them. The supports are designed to secure the prosthesis and ensure its reliable fixation.

Photo: artificial ear

The prosthesis is made in such a way as to obtain a mirror image of the patient's healthy ear. The edges of the prosthesis can be made as thin as possible so that there is no transition between the skin and the artificial ear.

The prosthesis is attached to the supports using clamps or a magnet. VistaFix TM technology allows you to get the most natural result without serious problems for the patient and with a guaranteed result.

Surgical correction of underdevelopment of the auricle

Plastic surgery to restore the auricle has many modifications and is often carried out in several stages. The method that the surgeon will use to recreate the ear depends on the degree of microtia: the higher the degree, the more work the surgeon will have to do.

To create the frame of the future auricle, the following can be used:

• own body tissues: costal cartilage, cartilage from a healthy ear;
• artificial materials: polyamide thread, silicone, etc.

Artificial frames for the auricle make it possible to perform most of the manipulations even before surgery and thereby reduce the time of the operation itself. But foreign materials and elements sooner or later cause a rejection reaction. Therefore, the body's own tissues are preferable.

Main stages of the operation:

• Formation of the ear canal.

Optional step. But in cases where it is necessary to restore the patency of the ear canal, this is performed before the restoration of the auricle begins.

• Formation of the frame of the future ear.

At this stage, part of the costal cartilage or cartilaginous part is removed from the healthy ear and the frame is given the desired shape.

• Frame placement.

The location of the finished frame on the side surface of the head is made in such a way as to make maximum use of the existing skin of the patient’s underdeveloped auricle. Cartilage usually takes 4-6 months to heal.

• Formation of ear structures.

This usually requires 1-2 operations. At this stage, the new auricle is given a normal anatomical position, the formation of structures such as the tragus is completed, and scar tissue that could have formed after the previous stages is eliminated. In terms of time, the operation to eliminate microtia with all its stages can take up to one and a half years.

Video: Operation - ear reconstruction

At what age is it better to have surgery?

Currently, there are techniques that allow reconstruction of an underdeveloped auricle as early as 1.5-2 years. But it is often recommended to carry out such an operation no earlier than 5-6 years, since as the child grows, the formed auricle may lose symmetry and lag behind in growth. If a child notices that he is different from other children and is worried about this, then the operation can be done a year before school.

Microtia price

Residents of Russia would do well to ask their surgeon about the possibility of performing surgery to eliminate ear microtia free of charge.

Photos before and after

Deformation of the auricle is a violation of the shape or integrity of the outer part of the ear, which occurred as a result of a congenital disorder of the development of the organ or injury.

Considering the degree and complexity of the deformation of the auricle, the existing defect may be purely cosmetic or may cause impaired hearing function, up to its complete loss. In medicine, both unilateral and bilateral deformities are diagnosed. An existing defect of a congenital or acquired type can be eliminated with the help of plastic surgery, practicing otoplasty. In order to determine the degree of hearing impairment, immediately before surgery, the patient must undergo an examination by an otolaryngologist.

Deformation of the auricle is diagnosed immediately after the birth of the child; for this, a simple examination of the newborn by a doctor is sufficient. The main cause of congenital deformities is a violation of the development of the fetus during uterine development, when the outer rim of the auricle and the underlying cartilage are not formed correctly. If the structure of these areas is incorrect, the location of the auricle occurs at a large angle relative to the skull. When a cosmetic defect such as protruding ears occurs, the symmetry of the ears is disrupted, and they can be quite large in size. Although this type of auricular deformation does not have a negative impact on hearing function, it causes disturbances in the mental and emotional state of the child, which is caused by constant ridicule from peers.

An important point in eliminating existing defects in childhood is the child’s readiness for surgical intervention. The best period for performing the operation is considered to be preschool age, however, if the deformation does not affect the mental state, then the intervention can be postponed until adolescence, when the child himself understands the importance and necessity of the operation.

Plastic surgery in the process of intervention solves the main problems: correcting the shape and creating symmetry between the ears and relative to other parts of the face.

Classification of ear deformities

The basic principle of classifying ear deformities lies in the nature of their origin, hence it is customary to divide defects into the following types:

• congenital defects;
• acquired defects.

If a person is diagnosed with a deformity of the auricle, the causes of which lie in developmental disorders during the first three months of bearing a child, this is a congenital defect. During the formation of the outer parts of the ear, deformations may have the following characteristics:

• excessive development of cartilage tissue, which disrupts the proportionality of the auricle and makes it large (macrotia);
• the position of the ears relative to the temporal bone is not parallel, but at an angle from 31 to 90 degrees (protruding ears);
• the upper part of the cartilage of the auricle is bent inward and directed towards the bottom;
• violation of the anatomical shape of the earlobe (double lobe, overdeveloped, fused), as well as the complete absence of the earlobe;
• change in the shape of the ear helix (rudimentary formations on the helix, absence of the helix and tubercle of the auricle, expanded ear helix with the upper part of the cartilage positioned outward);
• partial development of the ears (small ear sizes, flat or ingrown ears) - microtia.

If almost each of the defects - for the most part - is cosmetic, then microtia of the auricles can be associated with occlusion of the auditory canal, which leads to impaired hearing function or to its complete absence. In some clinical cases, microtia is a consequence of underdevelopment of the facial bones on the affected side. Bilateral microtia is a serious birth defect, which affects hearing function, facial symmetry, development of the lower jaw bones, speech is also impaired, and the patient receives a disability group.

Another important criterion for classifying ear deformities is the degree of complexity; in medicine there are three of them:

1. the auricle is underdeveloped, but there are areas of the organ that are developed at a sufficient level;
2. the auricle has a roll-shaped shape;
3. complete absence of the auricle.

In addition to congenital defects, there are acquired deformities of the ears. The main reason for their formation is:

• injuries to the ear area (for example, injury, violation of equipment and safety rules at the enterprise);
• diseases characterized by inflammation processes occurring inside the ear;
• surgical interventions performed poorly;
• burns;
• exposure to chemicals.

Most often, experts diagnose an acquired ear deformity called a keloid scar. The nature of its appearance is varied. The defect can be the cause of past inflammatory diseases or injuries; it manifests itself in the form of skin growths in the area of ​​the lobe or the entire ear. The formation of a keloid scar can occur even after a regular earlobe piercing.

Also, ear deformations are diagnosed according to the following types:

• partial - defect of the lower, upper or middle part of the auricle;
• subtotal - the cartilage of the ear fossa is present or completely absent;
• full - absence of an ear.

Features of surgical correction of ear deformities

In medicine, plastic surgery deals with the elimination of congenital and acquired defects of the outer ear, using the otoplasty technique. This method of surgical treatment is a rather complex operation, which is directly related to the structure of the external ear.

Most often, doctors diagnose a congenital defect such as protruding ears, while the angle of the auricle relative to the bones of the skull may be insignificant, or it may be clearly noticeable. Sometimes protruding ears can only be on one side; along with this defect, doctors often diagnose a lack of symmetry between the ears on both sides.

It is best to plan otoplasty in preschool age, when the child is under 7 years old. This period is due to the fact that the child’s psychological state does not suffer, he is not an object of ridicule by peers, and the further development of the ears will continue in an anatomically correct position. A person's auricle grows until the age of nine, but if the child does not understand the need for surgical intervention, then otoplasty can be postponed until adolescence. The opportunity to undergo plastic surgery on the ears remains at any age.

Patients in more mature years feel the need for otoplasty when they want to rejuvenate their appearance and make their facial proportions aesthetically attractive.

Given the complexity of surgical intervention, the patient should be aware of a number of contraindications, in the presence of which the surgeon will not be able to correct the defect.

Contraindications include:

• pathological incoagulability of blood or disruption of this function caused by taking medications;
• pathologies of internal organs;
• the presence of infectious processes;
• tumors of a malignant or benign nature;
• ascending inflammatory processes of the ear;
• high blood pressure;
• diabetes mellitus;
• high probability of keloid scar formation.

Depending on the degree of deformation of the auricle, otoplasty surgery can last from half an hour to two hours.

The main characteristic of otoplasty is that it is performed in several stages; most often, two operations are sufficient, but sometimes more may be required. The interval between interventions ranges from two to four months, which is due to the complex structure of the outer ear and the small amount of soft tissue present in the area behind the ear. To create any part of the outer ear, doctors use a graft from the patient's own tissue. The most suitable is the cartilage of the rib area.

Immediately before the operation, the surgeon is obliged to inform the patient about all manipulations, as well as about the final result that will be achieved at the end of each stage of the operation. An important point is to explain how the rehabilitation period will proceed and how long it will last.

There are two otoplasty techniques practiced in plastic surgery:

1. aesthetic surgery - performed to change the size and shape of the ears, solves the problems of protruding ears and broken symmetry between the ears, helps correct most cosmetic congenital and acquired defects of the ears;
2. reconstructive surgery - helps to get rid of severe deformations of the auricles, solves the problem of missing sections of the ear by recreating them from a graft.

Regardless of what type of surgery is needed in a particular clinical case, during otoplasty surgeons work with both the soft tissue of the auricle and the cartilage areas. Before the operation, the doctor must assess the condition of the soft tissues of the auricle, determine the complexity and type of deformation, and based on these indicators determine the type of otoplasty to be performed.

In the case where the patient is diagnosed with severe deformity and absolute restoration of the ear is necessary, the operation involves the introduction of general anesthesia. Simple deformities can be corrected under local anesthesia.

Complications of plastic correction of deformed ears

The main problems that a patient faces after otoplasty are the accumulation of blood clots in the area where plastic surgery was performed. In the absence of proper antiseptic care, the patient may become infected with a postoperative wound. Depending on the individual characteristics of the skin, a rough keloid scar may form.

Underdevelopment of the auricle when it is too small, it is called microtia. There are three degrees of microtia (Marx). With first-degree microtia, the auricle and its individual parts have a more or less normal structure. With microtia of the second degree, the auricle is greatly changed and its individual parts are difficult to recognize; In general, with microtia of the second degree, the auricle is a conglomerate of lumps consisting of skin and fat, and sometimes cartilage.

At microtia third degree, there are shapeless lumps in place of the auricle. Microtia can be unilateral or bilateral and in most cases is combined with other deformities, such as atresia of the external auditory canal and underdevelopment of the middle ear; however, the inner ear is usually normal, as indicated by preserved hearing for high-pitched sounds and normal bone conduction. Hearing loss with microtia is caused by atresia of the auditory canal and underdevelopment of the middle ear.

Hearing test using tuning forks, reveals all the symptoms of damage to the sound-conducting apparatus. In Weber's experiment, sound is lateralized into the underdeveloped ear; Rinne's experience can be negative.

Abnormalities of the external auditory canal

Congenital lesions external auditory canal(atresia congenita meatus acuslicus ext.) are almost always accompanied by anomalies in the development of the auricle, most often microtia, as well as anomalies of other parts - the tympanic cavity, the inner ear.

Atresias are usually one-sided, and right-sided ones are more common than left-sided ones; they occur more often in men than in women. Occasionally, atresia of the external auditory canal is observed in normal auricles.

L. T. Levin described bilateral atrezygo of the external auditory canals with normal auricles, and Heineman and Toynbee described bilateral atresia of the external auditory canals with underdevelopment of the auricles.

Due to the fact that external and the middle ear develop from the first and second gill slits; often the underdevelopment of these sections is combined with paralysis of the facial nerve, with a cleft lip, and asymmetry of the face and skull (N.V. Zak, 1913). There are often combinations with speech disorder and mental retardation (F. F. Zasedatelev, 1903; N. P. Trofimov, 1900).

Congenital atresia can be fibrous and bone, i.e., fusion in some cases occurs due to fibrous tissue, and in others - due to bone tissue. Sometimes the cartilaginous section is partially preserved, but ends blindly, and in place of the bone auditory canal there is an overgrowth with bone tissue.

Other anomalies external auditory canal are expressed in various forms: 1) in the form of narrowing of the external auditory canal; 2) closing the ear canal with a membrane, resulting in the formation of a blind sac; 3) bifurcation of the external auditory canal by the septum. Atresia and other abnormalities in the development of the auditory canal listed above are accompanied by decreased hearing, which is associated with the presence of an obstacle to the conduction of sounds.
In very rare cases, when there is underdevelopment of the inner ear, hearing may be completely absent.

Therefore, practically It is important to know the condition of the inner ear. Based on the hearing test data, the issue of surgical intervention is decided. In this regard, data on the degree of development of the middle ear also play an important role. They can be obtained by observing the mobility of the velum on the side of underdevelopment, the degree of development of the pharyngeal mouth of the Eustachian tube through posterior rhinoscopy, blowing, bougienage and radiography (with a metal bougie inserted into the Eustachian tube).

Subject to availability normal inner ear(presence of hearing) and provided that the presence of a tympanic cavity is established by the above methods, surgical intervention can be successful both cosmetically and functionally. With unilateral anomalies, some surgeons refrain from surgery, since the auditory function on the opposite side is not impaired. Surgery is considered the most appropriate for bilateral lesions.

Congenital ear defects, both external and internal, have always been a serious problem for people. Medicine has solved it through surgery only in the last century and a half. External anomalies are eliminated using external surgical correction. Malformations of the inner part of the ear apparatus require more complex surgical solutions.

The structure and functions of the human ear - types of congenital ear pathologies

It is known that the configuration and relief of a person’s auricle is as unique and individual as his fingerprints.

The human ear apparatus is a paired organ. Inside the skull it is located in the temporal bones. Externally limited by the auricles. The ear apparatus performs in the human body the difficult task of being both an auditory and vestibular organ. It is designed to perceive sounds, as well as to keep the human body in spatial balance.

The anatomical structure of the human auditory organ includes:

• external - auricle;
• average;
• internal.

Today, out of every thousand newborn babies, 3-4 children have one or another anomaly in the development of the hearing organs.

The main anomalies in the development of the ear apparatus are divided into:

1. Various pathologies of ear development;
2. Defects in the intrauterine formation of the middle part of the ear apparatus of varying degrees of severity;
3. Congenital damage to the inner part of the ear apparatus.

Developmental anomalies of the external ear

The most common anomalies primarily concern the auricle. Such congenital pathologies are distinguishable visually. They are easily detected when examining a baby not only by doctors, but also by the child’s parents.

Anomalies in the development of the auricle can be divided into:

• those in which the shape of the auricle is modified;
• those in which its dimensions change.

Most often, congenital pathologies combine to varying degrees both a change in the shape and a change in the size of the auricle.

The change in size may be in the direction of enlarging the auricle. This pathology is called macrotia. Microtia called reduction in the size of the ear.

A change in the size of the auricle until it completely disappears is called anotia .

The most common defects with changes in the shape of the auricle are as follows:

1. The so-called "macaque ear". At the same time, the curls in the auricle are smoothed out, almost reduced to nothing. The upper part of the auricle is directed inward;
2. Prominent ears. Ears with this malformation have a protruding appearance. Normally, the ears are located parallel to the temporal bone. With protruding ears, they are at an angle to it. The greater the angle of deviation, the greater the degree of protruding ears. When the auricles are located at a right angle to the temporal bone, the protruding ear defect is expressed to the maximum extent. Today, about half of newborns have protruding ears of greater or lesser severity;
3. The so-called "satyr's ear". In this case, the upward stretching of the auricle is pronounced. In this case, the upper tip of the shell has a pointed structure;
4. VRexpectedaplasia of the auricle, also called anotia, is the partial or complete absence of the pinna on one or both sides. It is more common in children with a number of genetic diseases - such as branchial arch syndrome, Goldenhar syndrome and others. Children whose mothers suffered from viral infectious diseases during pregnancy can also be born with anotia.

Aplasia of the auricle can manifest itself in the presence of a small formation of skin-cartilaginous tissue or in the presence of only the lobe. The auditory canal in this case is very narrow. Fistulas can form in parallel in the parotid region. With absolute anotia, that is, the complete absence of the auricle, the ear canal is completely overgrown. The child cannot hear anything with this organ. Surgery is necessary to free the ear canal.

In addition, there are such anomalies as skin growths on them in the form of processes of various shapes.
The most acceptable age for children to undergo surgery for ear anomalies is from five to seven years.

Congenital pathologies of the middle ear - types

Congenital defects in the development of the middle part of the ear apparatus are associated with pathology of the eardrums and the entire tympanic cavity. More common:

• deformation of the eardrum;
• the presence of a thin bone plate in place of the eardrum;
• complete absence of the tympanic bone;
• changes in the size and shape of the tympanic cavity, up to a narrow gap in its place or the complete absence of a cavity;
• pathology of the formation of auditory ossicles.

When anomalies of the auditory ossicles are damaged, as a rule, the incus or malleus is damaged. The connection between the eardrum and the malleus may be disrupted. With pathological intrauterine development of the middle part of the ear apparatus, deformation of the hammer handle is typical. The complete absence of the malleus is associated with the attachment of the tympanic membrane muscle to the outer wall of the ear canal. In this case, the Eustachian tube may be present, but it can also be completely absent.

Intrauterine pathologies of the formation of the inner ear

Congenital anomalies of the development of the internal part of the ear apparatus occur in the following forms:

• pathology of initial severity is expressed in the abnormal development of the organ of Corti and auditory cells. In this case, the auditory peripheral nerve may be affected. Tissue from the organ of Corti may be partially or completely absent. This pathology affects the membranous labyrinth to a limited extent;
• pathology of moderate severity, when diffuse changes in the development of the membranous labyrinth are expressed in the form of underdevelopment of the partitions between the scalae and whorls. In this case, the Reissner membrane may be absent. An expansion of the endolymphatic channel or its narrowing due to increased production of perilymphatic fluid may also be observed. The organ of Corti is present as a rudiment or completely absent. This pathology is often accompanied by atrophy of the auditory nerve;
• severe pathology in the form of complete absence– aplasia – the inner part of the ear apparatus. This developmental anomaly leads to deafness of this organ.

As a rule, intrauterine defects are not accompanied by changes in the middle and outer parts of this organ.

Microtia– a congenital anomaly in which there is underdevelopment of the auricle. The condition has four degrees of severity (from a slight decrease in the organ to its complete absence), can be unilateral or bilateral (in the first case, the right ear is most often affected, bilateral pathology is 9 times less common) and occurs in approximately 0.03% of all newborns (1 case per 8000 births). Boys suffer from this problem 2 times more often than girls.

In approximately half of the cases it is combined with other facial defects and almost always with a violation of the structure of other ear structures. Hearing deterioration of one degree or another is often observed (from a slight decrease to deafness), which can be caused by both a narrowing of the ear canal and anomalies in the development of the middle and inner ear.

Causes, manifestations, classification

No single cause of the pathology has been identified. Microtia often accompanies genetically determined diseases in which the formation of the face and neck is disrupted (hemifacial microsomia, Treacher-Collins syndrome, first branchial arch syndrome, etc.) in the form of underdevelopment of the jaws and soft tissues (skin, ligaments and muscles), and there are often prearicular papillomas (benign growths in the parotid area). Sometimes pathology occurs when a woman takes certain drugs during pregnancy that disrupt normal embryogenesis (fetal development) or after she has had viral infections (rubella, herpes). It was noted that the frequency of occurrence of the problem is not affected by the expectant mother’s consumption of alcohol, coffee, smoking or stress. Quite often the reason cannot be found out. In the later stages of pregnancy, prenatal (prenatal) diagnosis of the anomaly using ultrasound is possible.

Microtia of the auricle has four degrees (types):

• I – the size of the auricle is reduced, while all its components are preserved (lobe, helix, antihelix, tragus and antitragus), the ear canal is narrowed.
• II – the auricle is deformed and partially underdeveloped, it can be S-shaped or hook-shaped; The ear canal is sharply narrowed, and hearing loss is observed.
• III – the outer ear is a rudiment (has a rudimentary structure in the form of a skin-cartilaginous ridge); complete absence of the ear canal (atresia) and eardrum.
• IV – the auricle is completely absent (anotia).

Diagnosis and treatment

An underdeveloped auricle is identified quite simply, but additional examination methods are required to determine the condition of the internal structures of the ear. The external auditory canal may be absent, but the middle and inner ear are normally developed, as determined by computed tomography.

In the presence of unilateral microtia, the second ear is usually complete, both anatomically and functionally. At the same time, parents should pay great attention to regular preventive examinations of a healthy hearing organ to prevent possible complications. It is important to promptly identify and radically treat inflammatory diseases of the respiratory system, mouth, teeth, nose and paranasal sinuses, since infection from these foci can easily penetrate the ear structures and worsen an already serious ENT situation. Severe hearing loss can negatively affect the overall development of a child, who does not receive enough information and has difficulty communicating with other people.

Microtia treatment is a difficult problem for several reasons:

• A combination of correction of the aesthetic defect and correction of decreased hearing is required.
• Growing tissue can cause changes in the results obtained (for example, displacement or complete closure of the formed ear canal), so it is necessary to correctly choose the optimal period of intervention. Expert opinions vary between 6 and 10 years of a child’s life.
• The childhood age of patients makes it difficult to carry out diagnostic and therapeutic measures, which usually have to be performed under anesthesia.

Parents of the child often ask the question, which intervention should be done first - restoration of hearing or correction of defects of the outer ear (priority of functional or aesthetic correction)? If the internal structures of the auditory organ are preserved, reconstruction of the auditory canal must first be carried out, and then plastic surgery of the auricle (otoplasty). The reconstructed ear canal can become deformed, displaced, or completely close again over time, so a hearing aid is often installed to transmit sound through bone tissue, fixed to the patient's hair or directly to his temporal bone using a titanium screw.

Otoplasty for microtia consists of several stages, the number and duration of which depends on the degree of the anomaly. In general, the sequence of actions of the doctor is as follows:

• Modeling of the ear frame, the material for which can be your own costal cartilage or a fragment of a healthy auricle. It is also possible to use artificial (synthetic) implants made of silicone, polyacrylic or donor cartilage, however, foreign compounds often cause a rejection reaction, so “own” tissues are always preferable.
• In the area of ​​an insufficiently developed or absent auricle, a subcutaneous pocket is formed into which the finished frame is placed (its engraftment and the formation of the so-called ear block can take up to six months).
• The base of the outer ear is created.
• The fully formed ear block is lifted and fixed in the correct anatomical position. By moving a skin-cartilaginous flap (taken from a healthy ear), the elements of a normal auricle are reconstructed (the duration of the stage is up to six months).

Contraindications for surgery do not differ from those for any operation. During the rehabilitation period, asymmetry of the ears, skew of the “new” auricle due to scarring and displacement of the graft, etc. are often observed. These problems are eliminated through corrective interventions.

Psychological aspect of microtia

Children notice an abnormality in their ear around the age of 3 (they usually call it a "little ear"). What is important is the correct behavior of parents, who should not focus on the problem, which can lead to the child fixating on it with the subsequent formation of an inferiority complex. He must know that this is not forever - now he is just sick, but soon the doctors will cure him. Although some experts insist on performing the operation no earlier than 10 years, reconstruction of the outer ear is best performed by the age of six, before the child enters school, which avoids ridicule from peers and additional psychological trauma.

Microtia is an anomaly in the development of the auricle, which is often combined with hearing loss and almost always requires functional and aesthetic correction through surgery.

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According to the World Health Organization, up to 15% of children are born with obvious signs of various developmental abnormalities. However, congenital anomalies can appear later, so in general the incidence of malformations is much higher. It has been established that in children born to older mothers, anomalies occur more often, since the older the woman, the greater the amount of harmful effects of the external environment (physical, chemical, biological) on her body. Developmental anomalies in children born from parents with developmental anomalies are 15 times more common than in children born from healthy parents.

Congenital malformations of the outer and middle ear occur with a frequency of 1-2 cases per 10,000 newborns.

The inner ear appears already in the fourth week of embryonic development. The middle ear develops later, and by the time the baby is born, the tympanic cavity contains jelly-like tissue, which subsequently disappears. The outer ear appears in the fifth week of intrauterine development.

In a newborn, the auricle can be enlarged (hypergenesis, macrotia) or reduced (hypogenesis, microtia), which is usually combined with closure of the external auditory canal. Only some of its parts (for example, the earlobe) can be excessively enlarged or reduced. Developmental anomalies can be unilateral or bilateral and manifest themselves in the form of ear appendages, several auricles (poliotia). There are cleft lobes, congenital ear fistulas, and atresia (absence) of the external auditory canal. The auricle may be absent or occupy an unusual place. With microtia, it can be located in the form of a rudiment on the cheek (buccal ear), sometimes only the earlobe or the skin-cartilaginous ridge with the earlobe is preserved.

The auricle can be rolled, flat, ingrown, corrugated, angular (macaque ear), pointed (satyr ear). The auricle may have a transverse cleft, and the lobe may have a longitudinal cleft. Other defects of the lobe are also known: it can be adherent, large, or lagging. Combined forms of external ear defects are not uncommon. Anomalies in the development of the auricle and the external auditory canal are often combined in the form of its partial underdevelopment or complete absence. Such anomalies are described as syndromes. Thus, a malformation of connective tissue, in which many organs are affected, including the ears, is called Marfan syndrome. There are congenital deformities of both ears in members of the same family (Potter syndrome), bilateral microtia in members of the same family (Kessler syndrome), and orbital-auricular dysplasia (Goldenhar syndrome).

For macrotia (increase in the size of the auricle), taking into account the variety of changes, a number of surgical interventions have been proposed. If, for example, the auricle is enlarged evenly in all directions, i.e., has an oval shape, excess tissue can be excised. Operations to restore the auricle in the absence of it are quite complex because skin is needed, and it is necessary to create an elastic skeleton (support) around which the auricle is formed. To form the skeleton of the auricle, rib cartilage, cartilage of the auricle of a corpse, bone and synthetic materials are used. The ear pendants located near the auricle are removed along with the cartilage.

Congenital anomalies of ear development occur primarily in its outer and middle sections. This is explained by the fact that the elements of the inner and middle ear develop at different times and in different places, so in case of severe congenital anomalies of the outer or middle ear, the inner ear may turn out to be completely normal.

According to domestic and foreign experts, per 10,000 population there are 1-2 cases of congenital anomalies of the external and middle ear (S.N. Lapchenko, 1972). Teratogenic factors are divided into endogenous (genetic) and exogenous (ionizing radiation, drugs, vitamin A deficiency, viral infections - measles rubella, measles, chickenpox, influenza).

Possible damage to: 1) the auricle; 2) auricle, external auditory canal, tympanic cavity; 3) external, middle ear and facial bone defect.

The following malformations of the auricle are observed: macrotia - large auricle; microtia (microtia) - small deformed ear; anotia (anotia) - absence of the auricle; protruding ears; appendages of the auricle (single or multiple) - small skin formations located in front of the auricle and consisting of skin, subcutaneous fatty tissue and cartilage; parotid (paraauricular) fistulas - a violation of the processes of closing ectodermal pockets (2-3 cases per 1000 newborns), typical localization - the base of the helix, and atypical placement of a paraauricular fistula is possible.

Anomalies of the auricle lead to a cosmetic defect of the face, often combined with underdevelopment or absence of the external auditory canal (Fig. 51, 52, 53). Microtia and underdevelopment of the external auditory canal can be combined with hypoplasia of the entire middle ear. There are a wide variety of options for underdevelopment of the auditory ossicles, a lack of connection between them, most often between the malleus and the incus.

Rice. 51. Protruding ears

Rice. 52. Microtia and agenesis of the external auditory canal

Rice. 53. Microtia and ear appendages of the auricle

Anomalies in the development of the external auditory canal and middle ear cause conductive hearing loss.

Treatment of congenital anomalies of the outer and middle ear is surgical and is aimed at eliminating the cosmetic defect and reconstructing the sound conducting system of the outer and middle ear. Restoration of the external auditory canal is carried out in children under the age of 7 years, and correction of a cosmetic defect of the auricle is performed closer to 14 years.

Treatment of duck appendages is surgical. They are cut off at the base.

Paraauricular fistulas by themselves do not cause any discomfort (Fig. 54). Only infection and suppuration indicate their presence and require surgical intervention. After opening the abscess and eliminating the purulent process, the epidermal tract is completely removed. Opening the abscess is only a temporary help, since relapses of suppuration are possible in the future.

V.E. Kuzovkov, Yu.K. Yanov, S.V. Levin
St. Petersburg Research Institute of Ear, Throat, Nose and Speech
(Director - Honored Doctor of the Russian Federation, Prof. Yu.K. Yanov)

Cochlear implantation (CI) is currently generally recognized in world practice and the most promising direction for the rehabilitation of persons suffering from high-grade sensorineural hearing loss and deafness, with their subsequent integration into the hearing environment. In modern literature, the issues of classification of anomalies of the development of the inner ear are widely covered, including in relation to CI, and surgical techniques for performing CI for this pathology are described. The world experience of CI in persons with developmental anomalies of the inner ear spans more than 10 years. At the same time, there are no works on this topic in the domestic literature.

At the St. Petersburg Research Institute of Ear, Throat, Nose and Speech, for the first time in Russia, CI began to be performed on people with developmental anomalies of the inner ear. Three years of experience in such operations, the presence of successful results of such interventions, as well as an insufficient amount of literature on this issue, served as the reason for carrying out this work.

Classification of developmental anomalies of the inner ear. Current state of the issue.

With the advent of the late 80's - early 90's. high-resolution computed tomography (CT) and magnetic resonance imaging (MRI), these techniques have become widely used for diagnosing hereditary hearing loss and deafness, especially when determining indications for CI. With the help of these progressive and highly accurate techniques, new anomalies were identified that did not fit into the existing classifications of F. Siebenmann and K. Terrahe. As a result, R.K. Jackler proposed a new classification, expanded and modified by N. Marangos and L. Sennaroglu. However, it should be noted that MRI in particular currently reveals such fine details that the malformations detected can be difficult to classify.

In his classification of developmental anomalies of the inner ear, based on conventional radiography and early CT data, R.K. Jackler took into account the separate development of the vestibular semicircular and vestibular cochlear parts of a single system. The author suggested that various types of anomalies appear as a result of a delay or disruption of development at a certain stage of the latter. Thus, the types of malformations detected are correlated with the time of disruption. Later, the author recommended classifying combined anomalies as category A, and suggested a connection between such anomalies and the presence of an expanded aqueduct in the vestibule (Table 1).

Table 1

Classification of developmental anomalies of the inner ear according to R.K.Jackler

	Cochlear aplasia or malformation
	Labyrinthine aplasia (Michel anomaly) Cochlear aplasia, normal or deformed vestibule and semicircular canal system Cochlear hypoplasia, normal or deformed vestibule and semicircular canal system Incomplete cochlea, normal or deformed vestibule and semicircular canal system (Mondini anomaly) Common cavity: the cochlea and vestibule are represented by a single space without internal architecture, normal or deformed system of semicircular canals POSSIBLE presence of an expanded aqueduct of the vestibule
	Normal snail
	Dysplasia of the vestibule and lateral semicircular canal, normal anterior and posterior semicircular canals Enlarged aqueduct of the vestibule, normal or enlarged vestibule, normal system of semicircular canals

Thus, items 1 - 5 of categories A and B represent isolated developmental anomalies. Combined anomalies falling into both categories should be classified as category A in the presence of an expanded vestibular aqueduct. According to R.K. Jackler, S. Kösling made the statement that isolated anomalies represent not only a deformation of one structural unit of the inner ear, but can be combined with anomalies of the vestibule and semicircular canals, as well as with vestibular dysplasia and an enlarged aqueduct of the vestibule.

The N. marangos classification includes incomplete or aberrant development of the labyrinth (Table 2, item 5).

Table 2

Classification of developmental anomalies of the inner ear according toN. Marangos

	Subgroup
A = incomplete embryonic development	Complete aplasia of the inner ear (Michel anomaly) Common cavity (otocyst) Aplasia/hypoplasia of the cochlea (normal “posterior” labyrinth) Aplasia/hypoplasia of the “posterior labyrinth” (normal cochlea) Hypoplasia of the entire labyrinth Mondini dysplasia
IN = aberrant embryonic development	Expanded aqueduct of the vestibule Narrow internal auditory canal (intraosseous diameter less than 2 mm) Long transverse crest (crista transversa) Internal auditory canal divided into 3 parts Incomplete cochleomeatal separation (internal auditory canal and cochlea)
WITH = isolated hereditary anomalies	X-linked hearing loss
	Anomalies in hereditary syndromes

Thus, four categories (A-D) of inner ear malformations are described. The author considers the aqueduct of the vestibule to be dilated if the interosseous distance in the middle part exceeds 2 mm, while other authors give a figure of 1.5 mm.

L. Sennaroglu differentiates 5 main groups (Table 3): anomalies of the development of the cochlea, vestibule, semicircular canals, internal auditory canal and aqueduct of the vestibule or cochlea.

Table 3

Main groups and configurations of cochleovestibular anomalies according toL. Sennaroglu

Main groups	Configuration
Cochlear abnormalities	Michel anomaly / cochlear aplasia / common cavity / incomplete separation type I / cochlear hypoplasia / incomplete separation type II / normal cochlea
Vestibular abnormalities	The vestibule: absence/hypoplasia/enlargement (including Michel anomaly and common cavity)
Anomalies of the semicircular canals	Absence/hypoplasia/increased size
Anomalies of the internal auditory canal	Absent/narrow/extended
Anomalies of the aqueducts of the vestibule and cochlea	Advanced/Normal

Cochlear malformations (Table 4) were divided by the author into six categories depending on the degree of severity, depending on the time of disruption of the normal course of embryonic development. This classification of cochlear malformations includes an incomplete separation of types I and II.

Table 4

Classification of cochlear anomalies according to the time of disruption of intrauterine development according toL. Sennaroglu

Cochlear malformations	Description
Michel Anomaly (3rd week)	Complete absence of cochleovestibular structures, often - aplastic internal auditory canal, most often - normal aqueduct of the vestibule
Cochlear aplasia (end of 3rd week)	The cochlea is absent, normal, dilated or hypoplastic vestibule, and the system of semicircular canals, often - dilated internal auditory canal, most often - normal aqueduct of the vestibule
General cavity (4th week)	The cochlea and vestibule are a single space without internal architecture, a normal or deformed system of semicircular canals, or its absence; the internal auditory canal is more often widened than narrowed; most often - normal aqueduct of the vestibule
Incomplete separation type II (5th week)	The cochlea is represented by a single cavity without internal architecture; expanded vestibule; most often - an enlarged internal auditory canal; absent, enlarged or normal system of semicircular canals; normal aqueduct of the vestibule
Cochlear hypoplasia (6th week)	Clear separation of cochlear and vestibular structures, cochlea in the form of a small bubble; absence or hypoplasia of the vestibule and semicircular canal system; narrowed or normal internal auditory canal; normal aqueduct of the vestibule
Incomplete separation, type II (Mondini anomaly) (7th week)	Cochlea with 1.5 whorls, cystically dilated middle and apical whorls; the size of the cochlea is close to normal; slightly expanded vestibule; normal system of semicircular canals, expanded aqueduct of the vestibule

Taking into account the above modern ideas about the types of cochleovestibular disorders, we use the classifications of R.K. Jackler and L. Sennaroglu, as the most consistent with the findings encountered in their own practice.

Taking into account the small number of patients operated on, one case of successful CI for an inner ear anomaly is presented below.

Case from practice.

In March 2007, the parents of patient K., born in 2005, came to the St. Petersburg Research Institute of ENT with complaints about the child’s lack of reaction to sounds and lack of speech. During the examination, a diagnosis was made: Chronic bilateral sensorineural hearing lossIVdegree, congenital etiology. Secondary receptive and expressive language disorder. Consequences of intrauterine cytomegalovirus infection, intrauterine damage to the central nervous system. Residual organic damage to the central nervous system. Left-sided spastic upper monoparesis. AplasiaIfinger of the left hand. Hip dysplasia. Spasmodic torticollis. Pelvic dystopia of the hypoplastic right kidney. Delayed psychomotor development.

According to the conclusion of a child psychologist, the child’s cognitive abilities are within the age norm, and his intelligence is preserved.

The child received binaural hearing aids with heavy-duty hearing aids, without effect. According to the audiological examination, short-latency auditory evoked potentials were not recorded at a maximum signal level of 103 dB, and otoacoustic emissions were not recorded on both sides.

When conducting game audiometry in hearing aids, reactions to sounds with an intensity of 80-95 dB in the frequency range from 250 to 1000 Hz were revealed.

CT scan of the temporal bones revealed the presence of bilateral anomalies of the cochlea in the form of incomplete separationItype (Table 4). Moreover, this statement is true for both the left and right ears, despite the seemingly different picture (Fig. 1).

After the examination, the patient underwent CI on the left ear using the classical approach through anthromastoidotomy and posterior tympanotomy, with the introduction of an electrode through a cochleostomy. For the operation, a special shortened electrode was used (Med- El, Austria), having a working length of the active electrode of about 12 mm, specially designed for use in cases of anomaly or ossification of the cochlea.

Despite the intact auditory ossicles and stapedius muscle tendon, acoustic reflexes from the stapedius muscle were not recorded during the operation. However, when performing neural response telemetry, clear responses were obtained when 7 out of 12 electrodes were stimulated.

Postoperative transorbital radiography of the cochlea revealed that the active electrode of the implant is located in the common cavity (Fig. 4, arrow), taking the shape of an ideal circle.

During a control audiological examination one year after surgery, the patient was found to have reactions in the free sound field to sounds with an intensity of 15-20 dB in the frequency range from 250 to 4000 Hz. The patient’s speech is represented by one- and two-syllable words (“mom”, “give”, “drink”, “kitty”, etc.), a simple phrase of no more than two one- or two-syllable words. Considering that the patient’s age at the time of the re-examination was less than 3 years, the results of auditory-speech rehabilitation in this case should be considered excellent.

Conclusion

The modern classification of developmental anomalies of the inner ear not only gives an idea of ​​the diversity of such pathology and the time of occurrence of the defect during intrauterine development, but is also useful in determining the indications for cochlear implantation and in the process of choosing tactics for intervention. The observation presented in the work allows us to evaluate the possibilities of cochlear implantation as a means of rehabilitation in difficult cases, and expands the understanding of the indications for implantation.

Literature

1. Jackler R.K. Congenital malformations of the inner ear: a classification based on embryogenesis//R.K. Jackler, W.M. Luxford, W.F. House/ Laryngoscope. - 1987. - Vol. 97, no. 1. - P. 1 - 14.
2. Jackler R.K. The large vestibular aqueduct syndrome//R.K. Jackler, A. De La Cruz/ Laryngoscope. - 1989. - Vol. 99, No. 10. - P. 1238 - 1243.
3. Marangos N. Dysplasien des Innenohres und inneren Gehörganges//N. Marangos/HNO. - 2002. - Vol. 50, no. 9. - P. 866 - 881.
4. Sennaroglu L. A new classification for cochleovestibular malformations//L. Sennaroglu, I. Saatci/Laryngoscope. - 2002. - Vol. 112, No. 12. - P. 2230 - 2241.
5. Siebenmann F. Grundzüge der Anatomie und Pathogenese der Taubstummheit// F. Siebenmann/Wiesbaden: J. F. Bergmann; 1904. - 76s.
6. Stellenwert der MRT bei Verdacht auf Innenohrmissbildung//S. Kösling, S. Jüttemann, B. Amaya et al. / Fortschr Röntgenstr. - 2003. - Vol. 175, No. 11. - S. 1639 - 1646.
7. Terrahe K. Missbildungen des Innen- und Mittelohres als Folge der halidomidembryopathie: Ergebnisse von Röntgenschichtuntersuchungen//K. Terrahe/Fortschr Röntgenstr. - 1965. - Vol. 102, No. 1. - P. 14.

– a group of congenital pathologies that are characterized by deformation, underdevelopment or absence of the entire shell or its parts. Clinically, it can manifest itself as anotia, microtia, hypoplasia of the middle or upper third of the cartilage of the outer ear, including a rolled or fused ear, protruding ears, splitting of the lobe and specific anomalies: “satyr’s ear”, “macaque ear”, “Wildermuth’s ear”. Diagnosis is based on anamnesis, objective examination, assessment of sound perception, audiometry, impedance measurement or ABR test, computed tomography. Treatment is surgical.

1. Option A - combination of microtia with complete atresia of the external ear canal.
2. Option B - microtia, in which the ear canal is preserved.

• III – hypoplasia of the middle third of the auricle. It is characterized by underdevelopment of the anatomical structures located in the middle part of the ear cartilage.
• IV – underdevelopment of the upper part of the auricle. Morphologically represented by three subtypes:

1. Subtype A – rolled ear. There is an inflection of the curl forward and downward.
2. Subtype B – ingrown ear. It manifests itself by fusion of the upper part of the posterior surface of the shell with the scalp.
3. Subtype C – total hypoplasia of the upper third of the shell. The upper sections of the helix, the upper leg of the antihelix, the triangular and scaphoid fossae are completely absent.

• V – protruding ears. A variant of congenital deformity, in which there is a deviation in the angle of the auricle to the bones of the brain part of the skull.

The classification does not include local defects of certain areas of the shell - the helix and earlobe. These include Darwin's tubercle, "satyr's ear", bifurcation or enlargement of the lobe. It also does not include disproportionate enlargement of the ear due to cartilage tissue - macrotia. The absence of the listed options in the classification is due to the low prevalence of these defects compared to the above-mentioned anomalies.

Symptoms of ear abnormalities

Pathological changes can be detected already at the time of birth of the child in the delivery room. Depending on the clinical form, symptoms have characteristic differences. Anotia is manifested by agenesis of the concha and the opening of the auditory canal - in their place is a shapeless cartilaginous tubercle. This form is often combined with malformations of the bones of the facial skull, most often the lower jaw. With microtia, the shell is represented by a vertical ridge displaced forward and upward, at the lower end of which there is a lobe. With different subtypes, the ear canal may persist or be closed.

Hypoplasia of the middle of the auricle is accompanied by defects or underdevelopment of the pedicle of the helix, tragus, lower crus of the antihelix, and cup. Developmental anomalies of the upper third are characterized by “bending” of the upper edge of the cartilage outward, its fusion with the tissues of the parietal region located behind. Less commonly, the upper part of the shell is completely absent. The auditory canal in these forms is usually preserved. With protruding ears, the outer ear is almost completely formed, but the contours of the concha and antihelix are smoothed out, and the angle between the bones of the skull and the cartilage is more than 30 degrees, due to which the latter “protrudes” somewhat outward.

Morphological variants of earlobe defects include an abnormal increase in comparison with the entire concha, or its complete absence. When bifurcated, two or more flaps are formed, between which there is a small groove ending at the level of the lower edge of the cartilage. Also, the lobe can grow to the skin located behind it. An abnormal development of the helix in the form of Darwin's tubercle is clinically manifested by a small formation in the upper corner of the shell. With “satyr ear”, a sharpening of the upper pole is observed in combination with a smoothing of the helix. With “macaque ear,” the outer edge is slightly enlarged, the middle part of the helix is ​​smoothed out or completely absent. “Wildermuth’s ear” is characterized by a pronounced protrusion of the antihelix above the level of the helix.

Complications

Complications of anomalies in the development of the auricle are associated with untimely correction of deformities of the auditory canal. In such cases, severe conductive hearing loss in childhood leads to deaf-muteness or severe acquired disorders of the articulatory apparatus. Cosmetic defects negatively affect the child’s social adaptation, which in some cases becomes the cause of depression or other mental disorders. Stenosis of the lumen of the outer ear impairs the removal of dead epithelial cells and earwax, which creates favorable conditions for the life of pathogenic microorganisms. As a result, recurrent and chronic external and otitis media, myringitis, mastoiditis, and other bacterial or fungal lesions of regional structures are formed.

Diagnostics

The diagnosis of any pathology in this group is based on an external examination of the ear area. Regardless of the type of anomaly, the child is referred for a consultation with an otolaryngologist to exclude or confirm violations on the part of the sound-conducting or sound-receiving apparatus. The diagnostic program consists of the following studies:

• Assessment of auditory perception. Basic diagnostic method. It is carried out using sounding toys or speech, sharp sounds. During the test, the doctor evaluates the child's reaction to sound stimuli of varying intensity in general and from each ear.
• Tone threshold audiometry. Indicated for children over 3-4 years of age, due to the need to understand the essence of the study. In case of isolated lesions of the outer ear or their combination with pathologies of the auditory ossicles, the audiogram shows a deterioration in sound conduction while maintaining bone conduction. With concomitant anomalies of the organ of Corti, both parameters decrease.
• Acoustic impedance measurement and ABR test. These studies can be carried out at any age. The purpose of impedansometry is to study the functionality of the eardrum, auditory ossicles and to identify dysfunction of the sound-receiving apparatus. If the information content of the study is insufficient, the ABR test is additionally used, the essence of which is to assess the reaction of the central nervous system structures to a sound stimulus.
• CT scan of the temporal bone. Its use is justified in cases of suspected severe malformations of the temporal bone with pathological changes in the sound-conducting system, cholesteatoma. Computed tomography is performed in three planes. Also, based on the results of this study, the question of the feasibility and scope of the operation is decided.

Treatment of developmental anomalies of the auricle

The main method of treatment is surgery. Its goals are to eliminate cosmetic defects, compensate for conductive hearing loss and prevent complications. The selection of the technique and scope of the operation is based on the nature and severity of the defect and the presence of concomitant pathologies. The recommended age for intervention is 5-6 years. By this time, the formation of the auricle is completed, and social integration does not yet play such an important role. The following surgical techniques are used in pediatric otolaryngology:

• Otoplasty. Restoring the natural shape of the auricle is performed in two main ways - using synthetic implants or an autograft taken from the cartilage of the VI, VII or VIII rib. A Tanzer-Brent operation is performed.
• Meatotympanoplasty. The essence of the intervention is the restoration of the patency of the auditory canal and cosmetic correction of its entrance opening. The most common method is according to Lapchenko.
• Hearing aids. Suitable for severe hearing loss, bilateral damage. Classic prostheses or cochlear implants are used. If it is impossible to compensate for conductive hearing loss using meatotympanoplasty, devices with a bone vibrator are used.

Prognosis and prevention

The health prognosis and cosmetic result depend on the severity of the defect and the timeliness of surgical treatment. In most cases, it is possible to achieve a satisfactory cosmetic effect and partially or completely eliminate conductive hearing loss. Prevention of abnormalities in the development of the auricle consists of pregnancy planning, consultation with a geneticist, rational use of medications, giving up bad habits, preventing exposure to ionizing radiation during pregnancy, timely diagnosis and treatment of diseases from the group of TORCH infections, endocrinopathies.

A huge number (hundreds!) of nosological units with the generic word “Dysplasia” are known. This article lists in alphabetical order those nosological units that could not be placed in other articles in the reference book characterizing dysplasia (Craniofacial Dysplasia, Ectodermal Dysplasia, Epiphyseal Dysplasia, Dental Developmental Disorders, Chondrodysplasia, Achondrogenesis). Many dysplasias, like the vast majority of genetic diseases and phenotypes, are also difficult to identify using the ICD-10 system.

Code according to the international classification of diseases ICD-10:

• C41 Malignant neoplasm of bones and articular cartilage of other and unspecified sites
• C41.8
• D48.0
• K00.8
• Q04.4
• Q16.5
• Q77.1
• Q77.3
• Q77.5
• Q77.7
• Q77.8
• Q78.3
• Q78.5
• Q78.8
• Q84.2
• Q87.0
• Q87.1
• Q87.5
• Q87.8

Acromicric dysplasia (102370, В), congenital acromicria. Clinically: moderate facial anomalies, shortening of the hands and feet, severe growth retardation, short metacarpal and phalangeal bones. Laboratory findings: disorganized cartilage growth. ICD-10. Q87.1 Syndromes of congenital anomalies manifesting predominantly as dwarfism

Arterial fibromuscular dysplasia, see Fibromuscular dysplasia.

Diastrophic dysplasia - skeletal dysplasia with severe curvature of bones:

• Diastrophic dysplasia (222600, 5q31–5q34 5q32–5q33.1, mutations in the transmembrane sulfate transporter gene DTD, r). Clinically: congenital dwarfism with short limbs, ossification disorder and congenital epiphyseal cysts, hypertrophy of ear cartilage, cleft hard palate, kyphosis, scoliosis, abducted thumb, fusion of proximal interphalangeal joints, brachydactyly, bilateral clubfoot, calcification of rib cartilage
• Pseudodiastrophic dysplasia (264180). Clinically: rhizomelic shortening of the limbs, interphalangeal and metacarpophalangeal dislocations, elbow dislocations, severe clubfoot, increased distance between the coronal sutures of the skull, hypoplasia of the middle third of the face, hyperthermia, platyspondyly, tongue-like deformities of the lumbar vertebrae, scoliosis, hypoplasia of the 2nd vertebra, pronounced lumbar lordosis
• Congenital bone dysplasia de la Chapelle (#256050, r). Clinically: Lethal at birth, severe micromelia, kyphosis of the cervical spine, clubfoot equinovarus, abducted big toe, abducted toes, duplication of the middle phalanges, cleft palate, patent foramen ovale, respiratory failure, laryngeal stenosis, softening of the cartilages of the larynx and trachea, hypoplasia lungs, shortness of breath, small chest, congenital bone dysplasia, triangular fibula and ulna, platyspondyly, pathological metaphyses and epiphyses, sacral anomalies, additional pelvic ossification points. Laboratory: lacunar halos around chondrocytes in skeletal cartilage. ICD-10. Q77.5 Diastrophic dysplasia.

Ocular - maxillo - bone dysplasia (*164900, Â). Corneal opacity and multiple anomalies of the lower jaw and limbs. Synonym: OMM syndrome (from: ophthalmomandibulomelic). ICD-10. Q78.8 Other specified osteochondrodysplasias.

Greenberg dysplasia (215140, r) - congenital lethal dwarfism. Clinical picture: dwarfism with short limbs, prenatal death, severe fetal hydrops, noticeably shortened, “moth-eaten” long tubular bones, unusual ectopic ossification points, pronounced platyspondyly, pronounced extramedullary hematopoiesis. Synonym: hydropic chondrodystrophy. ICD-10. Q77.1.

de Morsier dysplasia (septo-optic dysplasia, 182230, Â?). Hypoplastic optic discs with a double edge, absence of the septum pellucidum, GH deficiency, pathology of the corpus callosum and cerebellum. ICD-10. Q04.4.

Diaphyseal dysplasia (Engelmann's disease) is a progressive symmetrical hyperostosis of the diaphysis of long tubular bones from the periosteum and endosteum with sclerosis of the newly formed bone tissue. Clinically: asthenic physique, severe pain in the bones of the legs, fusiform swelling of the lower leg, multiple subungual hemorrhages, myopathy, waddling gait, compression of cranial nerves, weakness, muscle fatigue, scoliosis, lumbar hyperlordosis, hypogonadism, anemia, leukopenia, increased ESR, hepatosplenomegaly, onset aged 10 to 30 years, sensitivity to GC, dysplasia, osteosclerosis and hyperostosis of the diaphysis. Synonyms:

• Camurati–Engelmann disease
• Ribbing's disease
• generalized hyperostosis
• systemic diaphyseal hyperostosis congenital
• progressive diaphyseal dysplasia
• systemic hereditary osteosclerosis with myopathy. ICD-10. Q78.3.

Dissegmental dysplasia is a group of hereditary skeletal dysplasias manifested by dwarfism, damage to the brain and internal organs. At least 2 forms, differing in clinical, radiological and morphological characteristics:

• Handmaker–Silvermann dissegmental dysplasia (224410, r) is a lethal form. Clinically: vertebral bodies of various sizes and shapes, early death, clinical picture resembles Kniest syndrome
• Dissegmental Rolland–Debuquois dysplasia (224400, r) is a milder form. Clinically: congenital chondrodystrophy, dwarfism, abnormal segmentation of the vertebrae, limited joint mobility, micromelia, curvature of the limbs, high palate, cleft hard palate, hydrocephalus, hydronephrosis, hypertrichosis. Synonyms: dissegmental dwarfism:
  • anisospondylic campomicromelic dwarfism
  • Rolland–Debuquois syndrome
• Dissegmental dysplasia with glaucoma (601561) - the phenotype resembles Kniest dysplasia (156550) and dissegmental dysplasia (224400, 224410), combined with severe glaucoma. ICD-10
• Q77.1
• Q77.3
• Q77.5 Diastrophic dysplasia.

Campomelic dysplasia (114290, Â, more often *211970, 17q24.3–q25.1, SOX9 gene, r) - congenital lethal dwarfism with short limbs, small size of the cartilaginous skull, platybasia, hypertelorism, depressed bridge of the nose, micrognathia, cleft palate, retraction tongue, hypoplasia of the lungs, hypoplasia of the trachea, narrow pelvis, anomalies of the hips, platyspondyly, kyphoscoliosis, hypotonia, absence of olfactory nerves, small hypoplastic scapulae, 11 pairs of ribs, short phalanges of the hands and feet, moderate curvature of the femurs and tibias, equinovarus deformity of the legs:

• Grant family syndrome (138930, Â) is one of the forms of skeletal dysplasias of the campomelic type. Clinically: blue sclera, hypoplasia of the jaws, campomelia, curvature of the clavicles, femurs and tibias, sloping shoulders, additional bones in the sutures of the skull. ICD-10.
• Q77.1.

Bone dysplasia with medullary fibrosarcoma (112250, BDMF gene, 9p22–p21, r). Clinically: skeletal dysplasia, malignant fibrous histiocytoma, bone fractures with minimal trauma, multiple necrosis of the bone diaphysis, compaction of the cortical layer of the diaphysis. ICD-10. C41 Malignant neoplasm of bones and articular cartilage of other and unspecified locations; C41.8.

Cranio-carpo-tarsal dysplasia (*193700, Freeman–Sheldon syndrome, B, r). Clinically: hypoplasia of the nose, mouth, deep-set eyes, ocular hypertelorism, camptodactyly; scoliosis. ICD-10. Q78.8 Other specified osteochondrodysplasias.

Cranio-metaphyseal dysplasia - dysplasia of the metaphyses of long bones in combination with severe sclerosis and thickening of the skull bones (leontiasis ossea), hypertelorism. ICD-10. Q78.8 Other specified osteochondrodysplasias.

Mesomelic Nivergelt dysplasia (*163400, Nivergelt syndrome). Clinically: short limb, dwarfism recognized at birth, radioulnar synostosis, rhomboid tibia and fibula, synostosis of the tarsal and metatarsal bones. ICD-10. Q77.8.

Mesomelic Reinhardt-Pfeiffer dysplasia (191400, Â). Congenital dwarfism, hypoplasia of the bones of the forearm and lower leg. ICD-10. Q78.8 Other specified osteochondrodysplasias.

Metatropic dysplasia (dysplasia) - congenital dwarfism with damage to the metaphyseal cartilages:

• Non-lethal form (156530, В)
• Lethal form (*250600, r): death in utero or shortly after birth. Clinically: intrauterine growth retardation, relatively short spine, severe scoliosis, kyphosis, anisospondyly, pelvic anomalies, hyperplasia of the femoral epicondyles, abnormal shape of the metaphyses, respiratory failure. Laboratory examination: violation of the formation of cartilage of the trachea and bronchi, absence of spongy substance of the metaphyses. ICD-10. Q78.5.

Metatropic Knystic dysplasia is a group of hereditary skeletal diseases manifested by rhizomelic dwarfism, probably due to collagen defects (#156550, collagen gene COL2A1, Â): metatropic dwarfism, macrocephaly, flat face, myopia, retinal detachment, cataracts, hearing loss, cleft palate, platyspondyly , inability to clench the hand into a fist. Laboratory examination: pathological collagen of cartilage under electron microscopy, excretion of keratan sulfate in the urine. ICD-10. Q78.5. Metaphyseal dysplasia. OMIM. Metatropic dysplasia:

• type I (*250600)
• type 2 Knista (#156550)
• with protruding lips and ectopic lens (245160)
• lethal (245190).

Metaphyseal dysplasia. Impaired transformation of the metaphyses of long bones into a normal tubular structure; at the same time, the ends of the long tubular bones become thickened and porous, the cortical layer becomes thinner. ICD-10. Q78.5.

Metaphyseal multiple dysplasia is a congenital disease characterized by thickening of long tubular bones, valgus deformation of the knee joints, flexion ankylosis of the elbow joints, enlargement and deformation of the skull; cranial metaphyseal dysplasia. ICD-10. Q78.5.

Mondini dysplasia is a congenital anomaly of the bones and membranous ear labyrinth, characterized by aplasia of the cochlea of ​​the inner ear and deformation of the vestibule and semicircular canals with partial or complete loss of auditory and vestibular functions. ICD-10. Q16.5 Congenital anomaly of the inner ear.

Oculo-auriculo-vertebral dysplasia (*257700) is a syndrome characterized by epibulbar dermoid, abnormal development of the auricle, micrognathia, vertebral and other anomalies “Goldenhar syndrome. Q18.8 Other specified malformations of the face and neck.

Oculovertebral dysplasia - microphthalmos, coloboma or anophthalmia with a small orbit, unilateral dysplasia of the upper jaw, macrostomia with underdeveloped teeth and malocclusion, malformations of the spine, cleft and underdeveloped ribs. ICD-10. Q87.8 Other specified congenital anomaly syndromes not elsewhere classified.

Otodental dysplasia (*166750, Â) - sensorineural hearing loss, dental anomalies (ball-shaped teeth, absence of small molars, molars with two pulp chambers, taurodontia, pulp stones). ICD-10. Q87.8 Other specified congenital anomaly syndromes not elsewhere classified.

Spondylometaphyseal dysplasia is a heterogeneous group of skeletal diseases with impaired growth and formation of the spine and long tubular bones; it differs from spondyloepimetaphyseal and spondyloepiphyseal dysplasias by involving only the metaphyses of the tubular bones. All three groups of dysplasia have spinal abnormalities. Spondylometaphyseal dysplasias are often observed as isolated cases, but various inherited forms with dominant, X-linked and recessive modes of inheritance have been described. ICD-10. Q77.8. OMIM: Spondylometaphyseal dysplasia:

• Goldblatt (184260)
  • with angular fractures (184255)
  • Algerian type (184253)
  • with enchondromatosis (271550)
  • type Richmond (313420).

Spondyloepimetaphyseal dysplasia (SEMD) is a heterogeneous group of skeletal diseases with impaired growth and formation of the spine and long bones. SEMD differs from spondylometaphyseal dysplasia (SMD) and spondyloepiphyseal dysplasia (SED) by involving both the metaphyses and the epiphyses. All three groups of dysplasias (SEMD, EDS and SMD) have spinal anomalies. EMD is often observed as isolated cases, but various inherited forms with dominant, X-linked and recessive types of inheritance have also been described:

• Kozlovsky spondyloepimetaphyseal dysplasia (*184252, Â): short stature, usually manifests between 1 and 4 years of age, short trunk, pathological femoral necks and trochanters, general platyspondyly
• Spondyloepimetaphyseal dysplasia with White's hypotrichosis (183849, Â): congenital hypotrichosis, rhizomelic short stature, limited hip abduction, enlarged metaphyses, delayed ossification of the epiphyses, areas of decay in the metaphyses, pear-shaped vertebral bodies in the thoracic and lumbar spine
• Strudwick's spondyloepimetaphyseal dysplasia (#184250, 12q13.11–q13.2, type II collagen a1 chain gene COL2A1, Â, the eponym “Strudwick” comes from the name of one of the patients): severe dwarfism, “chicken chest”, scoliosis, cleft dura palate, retinal detachment, facial hemangioma, inguinal hernia, clubfoot, disproportionately short limbs, normal mental development, sclerotic changes in the metaphyses of long bones, lesions are greater in the ulna than in the radius and in the fibula more than in the tibia, delayed maturation of the epiphyses
• Spondyloepimetaphyseal dysplasia with joint laxity (*271640, r)
• Spondyloepimetaphyseal dysplasia with short limbs (271665, r). ICD-10. Q77.8. OMIM: Spondyloepimetaphyseal dysplasia
• Kozlovsky (184252)
• White (183849)
• Strudwick (184250)
• with joint laxity (271640)
• with short limbs (271665)
• X - linked (300106)
• with abnormal dentin development (601668)
• Missouri type (*602111)
• micromelic (601096).

Spondyloepiphyseal dysplasia is a group of hereditary skeletal diseases that differs from spondyloepiphyseal dysplasia in the absence of damage to the metaphyses of long tubular bones:

• Congenital spondyloepiphyseal dysplasia (#183900, collagen gene COL2A1, Â). Clinically: congenital dwarfism with a short body, normocephaly, flat face, myopia, retinal detachment, cleft hard palate, platyspondyly, short neck, subluxation of the cervical vertebrae, hypoplasia of the odontoid process, kyphosis, scoliosis, lumbar lordosis, cervical myelopathy, hypotonia, mental retardation , barrel chest, sensorineural hearing loss, hypoplasia of the abdominal muscles, abdominal and inguinal hernias, insufficient ossification of the pubic bones, distal epiphyses of the femur and proximal tibia, talus and calcaneus, flattening of the vertebral bodies
• Dysplasia spondyloepiphyseal Maroto (184095, Â): platyspondyly, normal intelligence, shortening of the limbs, X-shaped deformity of the legs, abnormal shape of the pelvic inlet
• Spondyloepiphyseal dysplasia with retinal dystrophy (183850, В)
• Spondyloepiphyseal dysplasia, myopia and sensorineural hearing loss (184,000, Â), possibly allelic with Stickler syndrome
• Spondyloepiphyseal dysplasia Schimke (*242900, r)
• Spondyloepiphyseal dysplasia, Irapa type (*271650, r), is common among the Irapa Indians in Venezuela and Mexico. Clinically: shortening of the spine, platyspondyly, short metacarpal and metatarsal bones, pathological proximal femoral epiphyses and distal humerus
• Spondyloepiphyseal dysplasia with atlantoaxial instability (600561, Â)
• Spondyloepiphyseal pseudoachondroplastic dysplasia (type 3: 177150, Â; 264150, r; #177170) is one of the most common skeletal dysplasias. Patients appear normal at birth, and growth retardation is rarely recognized until the second year of life or later. Unlike achondroplasia, the head and face are normal. The fingers are short but do not have the trident shape typical of achondroplasia. There are various deformities of the lower extremities, and ligament weakness is noted. Clinically: short-limb dwarfism, recognized in childhood; lumbar lordosis, kyphosis, scoliosis, dislocations in the atlantoaxial joint, brachydactyly, ulnar deviation of the wrists, limited straightening in the elbow and hip joints, ligament weakness, X-shaped deformity of the legs, chronic myelopathy of the cervical spinal cord, platyspondyly, deformation of the vertebral bodies, shortening of the tubular bones, enlarged metaphyses, abnormal epiphyses
• Late dominant spondyloepiphyseal dysplasia (*184100, Â): dwarfism with shortening of the trunk, recognized in childhood, wide face, platyspondyly, short neck, subluxation of the cervical vertebrae, hypoplasia of the odontoid process, kyphoscoliosis, lumbar lordosis, barrel-shaped chest, pathology of the femoral heads with degenerative changes
• Late spondyloepiphyseal dysplasia with a characteristic face (600093, r): microcephaly, developmental delay, wide root and tip of the nose, short wide filter (philtrum), thick lips, progressive narrowing of the intervertebral distances, smoothed genicular epiphyses
• Late spondyloepiphyseal dysplasia with progressive arthropathy (*208230, 6q, PPAC gene, r). Synonym: progressive pseudorheumatoid arthropathy. Clinically: arthropathy, progressive morning stiffness, swelling of the finger joints; histologically: normal synovial membrane, age of onset - about 3 years, reduced mobility of the cervical spine, smoothed vertebral bodies, ossification defects, widened proximal and middle phalanges of the fingers. Laboratory: normal ESR, negative rheumatoid tests, bone dysplasia, pathological acetabulum, short stature in adults (140–150 cm)
• Splasia spondyloepyphysular late (*313400, à): congenital dwarficity with short limbs, normal shape of the skull, flat face, short neck, plates, subviped cervical vertebrae, dentisting hypoplasia, kyphoscoliosis, lumbar lordosis, barrel -shaped chest, degenerative arthritis RENED joints, diagnosis cannot be established earlier than 4–6 years of age
• Late recessive spondyloepiphyseal dysplasia (*271600, r)
• Late spondyloepiphyseal dysplasia with mental retardation (271620, r). Clinically: mild or moderate mental retardation, tongue-like shape of the lumbar vertebral bodies, platyspondyly, expansion of the iliac bones, deformity of the acetabulum with hip subluxation and varus deformity in the joint, thin femoral necks. ICD-10. Q77.7.

Trichodental dysplasia (601453, Â) - hypodontia and abnormal hair growth. ICD-10.

• Q84.2 Other congenital hair abnormalities
• K00.8.

Fibrous bone dysplasia is a violation of the structure of the tubular bone in the form of replacement with fibrous tissue, which leads to its symmetrical curvature and thickening; the process may be limited to one bone or involve many bones (multiple fibrous osteodysplasia) “fibrous osteodysplasia” Lichtenstein–Braitz disease “fibrous osteoma” osteofibroma “local fibrous osteitis. ICD-10.

• D48 Neoplasm of undetermined or unknown nature, other and unspecified localizations
• D48.0.

Frontofacial dysplasia (*229400, frontofacial dysostosis, r) - brachycephaly, cerebral hernia, hypoplasia of the frontal bone, blepharophimosis, ptosis, hare's eye, coloboma of the eyelid and iris, hypertelorism, cataracts, microphthalmos, microcornea, hypoplasia of nasal structures, cleft lip/ palate. ICD-10. Q87.0 Syndromes of congenital anomalies affecting primarily the appearance of the face.

Cranioclavical dysplasia (#119600, 6p21, defect of the CBFA1 transcription factor gene, Â; 216330, r, severe form). Clinically: moderate growth retardation, brachycephaly, hypoplasia of the middle third of the face, delayed eruption of primary and permanent teeth, supernumerary teeth, spina bifida occulta, widening of the sacroiliac joints, hypoplasia or aplasia of the clavicles, abnormal position of the shoulder blades, narrow chest, shortening of the ribs, hypoplasia pubic bones, widening of the symphysis, hypoplasia of the hip joint with dislocation of the hip, brachydactyly, acroosteolysis, joint laxity, syringomyelia, permanently open sutures of the skull with protrusion of the fontanelles, shortening of the middle phalanx of the fifth finger, thin diaphyses of the phalanges and metacarpal bones of the fingers, cone-shaped epiphyses, moderate delay bone age in childhood:

• Younis-Varon syndrome (*216340, r): large skull with dehiscence, micrognathia, poorly defined lips, absence of clavicles, thumb, distal phalanges, hypoplasia of the proximal phalanx of the big toes, pelvic dysplasia, bilateral hip subluxation. ICD-10. Q87.5 Other congenital anomaly syndromes with other skeletal changes.

Epithelial dysplasia of the mucous membranes (*158310, Â). Clinically: damage to the red border of the lips, photophobia, follicular keratosis, nystagmus, keratoconjunctivitis, cataracts, moderate baldness, chronic nail infections, repeated pneumonia, cystic fibrosis lung disease, cor pulmonale, candidiasis of the skin and mucous membranes, diarrhea in infancy, T disorders - and B cellular immunity. Laboratory: in smears from the vagina, oral cavity, urinary tract - large immature cells containing vacuoles and strip-like inclusions, histology of the mucous membranes - dyskeratosis and lack of keratinization, ultrastructure of epithelial cells - lack of keratohyalin, a decrease in the number of desmosomes. ICD-10: coded according to the clinically most significant syndrome for a given treatment.

For atresia of the external auditory canal the tympanic bone (os tympanicum) may be absent. Deformities of the middle ear of varying degrees are associated with this deficiency. In mild deformities, the eardrum is preserved, but, as a rule, it is always incorrectly formed. In other, more severe cases, there is only a bone plate in place of the eardrum.

At the same time tympanic cavity can be reduced due to thickening of the walls, especially due to the lower section. Sometimes the cavity is so narrowed that it takes on a slit-like shape, and with high degrees of deformity it may even be completely absent, in its place there is only spongy bone.

Auditory ossicles, especially the malleus and incus, in most cases are formed incorrectly. The hammer handle is especially deformed; Sometimes there is no connection between the malleus and the eardrum.

For severe degrees deformities the bones may be completely absent, while the muscles of the tympanic cavity exist and are even well developed. However, in the absence of the malleus, the tensor tympani muscle attaches to the lateral wall. The facial nerve always exists, but the course can be changed. The Eustachian tube almost always exists, but occasionally partial or complete atresia occurs.

Haruzek(Charousek, 1923) observed isolated underdevelopment of the lateral wall of the attic and the shrapnel membrane; the auditory ossicles were deformed. At the same time, the same patient had microtia with atresia of the external auditory canal and deafness with normal excitability of the vestibular apparatus in the other ear. This is a rare case of underdevelopment of all three departments.
Microsurgical operations for anomalies of the middle ear, removal of abnormally formed auditory ossicles, especially the malleus, can lead to improved hearing.

Developmental abnormalities of the inner ear

(labyrinth) are very rarely expressed in the form of organ aplasia; the latter leads to deafness in that ear.
Usually anomalies The development of the labyrinth is limited (partial) in nature and concerns only the organ of hearing, the auditory nerve or the brain part of the latter, but there are also more varied changes that involve the entire pyramid of the temporal bone, the middle and outer ear, and the facial nerve. According to Siebenmann, with atresia of the external auditory canal, pathological changes in the inner ear are found in only one third of cases.

Bulk deaf and dumb, having more or less gross changes on the part of the inner ear or auditory nerve, usually does not have those on the part of the outer and middle ear (B. S. Preobrazhensky), which is due to the peculiarities of the embryonic development of the auditory organ.

Developmental abnormalities of the inner ear, which are limited in nature without the presence of simultaneous malformations of the surrounding areas, can occur in the form of: 1) complete absence of the inner ear; 2) diffuse developmental anomaly of the membranous labyrinth; 3) limited anomaly of development of the membranous labyrinth (organ of Corti and auditory cells). The most striking example of the complete absence of the labyrinth and auditory nerve is the only case described by Michel (1863).

Diffuse anomalies Membranous labyrinths are found more often among the deaf and mute and can arise as independent developmental anomalies due to intrauterine infection. They can be expressed in the form of underdevelopment of the partitions between the volutes and scalae, the absence of Reisner's membrane, expansion of the endolymphatic canal with an increase in fluid, or, conversely, expansion of the perilymphatic space with an increase in perilymphatic fluid due to the collapse of Reisner's membrane, which leads to a narrowing of the endolymphatic canal; The organ of Corti may be in some places rudimentary, and in others completely absent; there are no cells of the spiral ganglion or they are underdeveloped. Often there may be no fibers of the auditory nerve trunk or their atrophy.

Stria vascularis may be completely absent, sometimes only in places, but it also happens the other way around: a strong increase in it up to half the lumen of the canal. The vestibular part usually remains normal in case of anomalies of the cochlear apparatus, but occasionally there is an absence or underdevelopment of one or another part of it (otolithic membrane, maculae, cupulae, etc.).
Developmental anomalies, associated with intrauterine infection, arise either due to fetal meningitis or placental infection with syphilis.

Finally, there are anomalies development, relating only to the organ of Corti, its epithelium on the basilar plate and partly the peripheral nerve endings. All changes in the organ of Corti can be expressed differently: in some places they are completely absent, in others they can be underdeveloped or metaplastic.

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