Anomalies in the development of the auricle. Pathology can be of varying degrees of severity. Symptoms of ear abnormalities

Known great amount(hundreds!) of nosological units with the generic word “Dysplasia”. 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 by international classification diseases ICD-10:

C41 Malignant neoplasm bones and articular cartilage other and unspecified locations
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, impaired ossification and congenital cysts epiphyses, ear cartilage hypertrophy, 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, severe lumbar lordosis
Congenital bone dysplasia de la Chapelle (#256050, r). Clinically: Lethal at birth, severe micromelia, kyphosis cervical region spine, clubfoot equinovarus, abducted thumb, abducted toes, duplication of the middle phalanges, cleft palate, open oval window, respiratory failure, laryngeal stenosis, softening of the cartilage of the larynx and trachea, pulmonary hypoplasia, shortness of breath, small rib cage, congenital bone dysplasia, triangular fibular 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 abnormalities 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 double margin, absence of septum pellucidum, GH deficiency, pathology 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 cranial nerves, weakness, muscle fatigue, scoliosis, lumbar hyperlordosis, hypogonadism, anemia, leukopenia, increased ESR, hepatosplenomegaly, onset between the ages of 10 and 30 years, sensitivity to GCs, 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, brain damage 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 Knist syndrome
Dissegmental Rolland–Debuquois dysplasia (224400, r) - more soft 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, abnormalities of the hips, platyspondyly, kyphoscoliosis, hypotonia, absence of olfactory nerves, small hypoplastic shoulder blades, 11 pairs of ribs, short phalanges of the hands and feet, moderate curvature of the femoral and tibia, equinovarus leg deformity:

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 collarbones, 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, anisospondylia, pelvic anomalies, hyperplasia of the femoral epicondyles, abnormal form 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 Knyst dysplasia - group hereditary diseases skeleton, 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 make 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, hallux valgus deformity knee joints, flexion ankylosis of the elbow joints, increase in size 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 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 types inheritance. 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. In all three groups of dysplasias (SEMD, EDS and SMD), there are 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 body, pathological cervix femurs and their trochanter, general platyspondyly
Spondyloepimetaphyseal dysplasia with White's hypotrichosis (183849, Â): congenital hypotrichosis, rhizomelic short stature, limited abduction of the hips, enlarged metaphyses, delayed ossification of the epiphyses, areas of decay in the metaphyses, vertebral bodies in the thoracic and lumbar regions pear-shaped 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, the lesion is greater in the ulna than in the radius and in the fibula more than 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 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
Spondyloepiphyseal dysplasia Maroto (184095, Â): platyspondyly, normal intelligence, shortened limbs, X - figurative deformation 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, В; 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. Deformations lower limbs are different, there is weakness of the ligaments. 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
Dyplasia spondyloepyphysular late dominant (*184100, â): dwarfism with a shortening of the body, recognized in childhood, a wide face, platesles, a short neck, shade of cervical vertebrae, gyp -shaped process hypoplasia, kyphoscoliosis, lumbar lordosis, barrel -shaped chest cell, pathology of the head of the femoral bones s degenerative changes
Late spondyloepiphyseal dysplasia with a characteristic face (600093, r): microcephaly, developmental delay, broad 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)
Late spondyloepiphyseal dysplasia (*313400, À): congenital dwarfism with short limbs, normal skull shape, flat face, short neck, platyspondyly, subluxation of the cervical vertebrae, hypoplasia of the odontoid process, kyphoscoliosis, lumbar lordosis, barrel chest, degenerative arthritis of the hip 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 acetabulum with hip subluxation and varus deformity in the joint, thin femoral neck. 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 - structural disorder tubular bone as a replacement 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 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 in 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, sacral expansion iliac joints, hypoplasia or aplasia of the clavicles, abnormal position of the shoulder blades, narrow chest, shortening of the ribs, hypoplasia of the pubic bones, widening of the symphysis, hypoplasia of the hip joint with hip dislocation, brachydactyly, acroosteolysis, loose joints, syringomyelia, constantly open sutures of the skull with protrusion of the fontanelles, shortening of the middle phalanges of the fifth finger, thin diaphyses of the phalanges and metacarpal bones of the fingers, cone-shaped epiphyses, moderate delay in bone age in childhood:

Younis-Varon syndrome (*216340, r): large skull with dehiscence, micrognathia, poorly defined lips, absence of clavicles, thumb, distal phalanges of the fingers, 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, keratosis pilaris, nystagmus, keratoconjunctivitis, cataracts, moderate baldness, chronic nail infections, repeated pneumonia, cystic - fibrotic disease lungs, cor pulmonale, candidiasis of the skin and mucous membranes, diarrhea in infancy, disorders of T - and B cellular immunity. Laboratory: in vaginal smears, oral cavity, urinary tract - large immature cells containing vacuoles and strip-like inclusions, histology of the mucous membranes - dyskeratosis and lack of keratinization, ultrastructure epithelial cells- lack of keratohyalin, reduction in the number of desmosomes. ICD-10: coded according to the clinically most significant syndrome for a given treatment.

1. Allosia is a congenital complete absence or underdevelopment (for example, absence of the organ of Corti) of the inner ear. 2. Atresia - fusion of the external ear canal; when congenital, it is usually combined with underdevelopment of the auricle or its complete absence. Acquired atresia can be a consequence of prolonged inflammation of the skin of the ear canal (with chronic suppuration from the ear), or scar changes after injuries. In all cases, only complete closure of the ear canal leads to significant and persistent hearing loss. With incomplete fusions, when there is at least a minimal gap in the ear canal, hearing usually does not suffer. 3. Protruding ears, combined with an increase in their size - macrotia, or small sizes of the auricle - microtia. Due to the fact that the functional significance of the auricle is small, all its diseases, injuries and developmental anomalies, up to complete absence, do not entail significant violation hearing and have mainly only cosmetic value. 4. Congenital fistulas - non-closure of the gill cleft, open on the anterior surface of the auricle, slightly above the tragus. The hole is hardly noticeable and a viscous, clear liquid yellow color. 5. Congenital anomalies of the middle ear - accompany developmental disorders of the outer and inner ear (filling of the tympanic cavity with bone tissue, lack of auditory ossicles, merging them). The cause of congenital ear defects most often lies in disturbances in the development of the embryo. These factors include pathological effects on the fetus from the mother’s body (intoxication, infection, injury to the fetus). Hereditary predisposition also plays a certain role. Damage to the hearing organ that occurs during childbirth should be distinguished from congenital developmental defects. For example, even injuries to the inner ear can be the result of compression of the fetal head by the narrow birth canal or the consequences of superimposition obstetric forceps during pathological childbirth. Congenital deafness or hearing loss is either a hereditary disorder of the embryological development of the peripheral part auditory analyzer or its individual elements (external, middle ear, bone capsule of the labyrinth, organ of Corti); or hearing impairment associated with viral infections suffered by the pregnant woman during early dates(up to 3 months) pregnancy (measles, flu, mumps); or the consequences of toxic substances entering the body of pregnant women (quinine, salicylic drugs, alcohol). Congenital hearing loss is detected already in the first year of a child’s life: he does not move from “humming” to pronouncing syllables or simple words, but, on the contrary, gradually becomes completely silent. In addition, by the middle of the second year at the latest normal child learns to turn towards a sound stimulus. The role of the hereditary (genetic) factor as a cause of congenital hearing impairment was somewhat exaggerated in previous years. However, this factor undoubtedly has some significance, since it is known that children with congenital hearing defects are born to deaf parents more often than to hearing parents. Subjective reactions to noise. In addition to sound trauma, i.e. objectively observable hearing damage, long stay in an environment “polluted” with excessive sounds (“sound noise”), leads to increased irritability, poor sleep, headaches, increased blood pressure. The discomfort caused by noise largely depends on the subject's psychological attitude towards the source of the sound. For example, a resident of a building may be annoyed by the piano being played two floors above, although the volume level is objectively low and other residents have no complaints.

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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” she behaves future mom(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 the ear was also cited as a cause of underdevelopment of the ear. blood vessels, and rubella disease, and the use of Thalidomide during pregnancy. However, none of these hypotheses has had sufficient scientific confirmation.

Consideration of the “genetic” component this issue showed that the heredity factor 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, it is in in this case 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 a rudiment normal ear, in other words, is vestigial. 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 one, but at the same time enough effective option Correction of the developmental defect of the ear 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 a congenital malformation of the auricle in the form of insufficient development and/or deformation. This anomaly in almost 50% is combined with other disorders of facial proportionality and almost always with atresia (absence) of the external auditory canal. According to data various sources Microtia with atresia of the external auditory canal occurs in 1 in 10,000 to 20,000 newborns.

Like any other physical defects, microtia significantly changes the aesthetic appearance of a person, negatively affects his mental state, and causes the formation of an inferiority complex, and atresia of the auditory canal, especially bilateral, causes delayed development of the child and disability. All this negatively affects the quality of life, especially with bilateral localization of the pathology.

Causes and severity of the anomaly

In male children, compared to girls, microtia and atresia of the external auditory canal are observed 2-2.5 times more often. As a rule, this defect is unilateral and most often localized on the right, but in approximately 10% of cases the pathology is bilateral.

To date, the causes of the pathology have not been established. Many different hypotheses for its development have been proposed, for example, the influence of viruses, in particular the measles virus, damage to blood vessels, toxic effects on the fetus various drugs taken by a woman during pregnancy, diabetes, the influence of an unhealthy lifestyle (reception alcoholic drinks, smoking, stress) of a pregnant woman and factors environment etc.

However, all these hypotheses did not stand the test - upon further study, none of them were confirmed. Proven presence hereditary predisposition in some newborns, but this reason is not decisive. Even in families in which both parents have microtia, most often children are born with normal ears and external auditory canals.

In 85% of cases, the disease is sporadic (scattered). Only 15% are one of the manifestations of hereditary pathology, and of these, half of the cases are bilateral microtia. In addition, the anomaly in question may be one of the manifestations of such hereditary diseases as Konigsmarck, Treacher-Collins, and Goldenhar syndromes.

Double-sided congenital pathology with atresia of the auditory canal without auditory prosthetics from infancy leads to a delay in the development of speech, perception, memory, thinking processes, logic, imagination, the formation of concepts and ideas, etc.

The severity of the abnormal condition varies from a moderate reduction in size and slightly pronounced deformation of the auricle to its complete absence (anotia) and atresia of the external auditory canal. Big number existing classifications congenital anomaly hearing organs are based on etiopathogenetic and clinical signs. Depending on the severity of the pathology, four degrees are distinguished:

I degree - the auricle is slightly reduced, the external auditory canal is preserved, but its diameter is somewhat narrower compared to the norm.
II degree - the auricle is partially underdeveloped, the ear canal is very narrow or absent, the perception of sounds is partially reduced.
III - the auricle is a rudiment and has the appearance of a rudiment, the auditory canal and eardrum absent, hearing is significantly reduced.
IV - anotia.

However, the presence of microtia in a newborn is assessed by most plastic surgeons in accordance with H. Weerda’s classification, which reflects the degree of isolated developmental anomaly of the auricle only (without taking into account changes in the auditory canal):

Microtia of the first degree - the auricle is flattened, bent and ingrown, has smaller dimensions than normal, the earlobe is deformed, but all elements are anatomically slightly changed and are easily recognizable.
Microtia II degree - small-sized drooping auricle, top part which is represented by an underdeveloped, as if curled, curl.
Microtia III degree represents the most severe form. This is a deep underdevelopment of the ear, manifested in the presence of only rudimentary remains - a skin-cartilaginous ridge with a lobe, only a lobe, or the complete absence of even rudiments (anotia).

Otolaryngologist surgeons often use the H. Schuknecht classification. It most fully reflects the specifics of the developmental anomaly depending on changes in the ear canal and the degree of hearing loss, and helps in choosing treatment tactics. This classification is based on the types of auditory canal atresia:

Type “A” - atresia is noted only in the cartilaginous part of the external auditory canal. In this case, there is a hearing loss of the first degree.
Type “B” - atresia affects both cartilaginous and bone parts. Hearing is reduced to II-III degree.
Type “C” - any form of complete atresia, hypoplasia of the tympanic membrane.
Type “D” - complete atresia, accompanied by a slight air content (pneumatization) of the mastoid process of the temporal bone, incorrect location of the labyrinthine capsule and canal facial nerve. Such changes are a contraindication to surgical operations to improve hearing.

Surgery to restore the auricle and hearing functions for microtia

Microtia II degree
Stages of ear reconstruction

Due to the fact that usually ear abnormalities combined with wired (conductive) hearing loss, and sometimes found in combination with the latter with a sensorineural form, reconstructive operations are quite complex problem and are planned plastic surgeon together with an otolaryngologist surgeon. Doctors of these specialties determine the age of the child for surgical intervention, as well as surgical methods, stages and sequence of surgical treatment.

Compared to eliminating a cosmetic defect, restoring hearing in the presence of concomitant atresia is a higher priority. Childhood makes it much more difficult to carry out diagnostic studies. However, if there are visible birth defects in a child in early age First of all, a study of hearing function is carried out using such objective methods as registration of evoked otoacoustic emission, acoustic impedance measurement, etc. In children over four years of age, the diagnosis of hearing acuity is determined by the degree of perception of intelligible spoken and whispered speech, as well as through threshold audiometry. In addition, a computed tomography scan of the temporal bone is performed to detail the existing anatomical disorders.

Determining the age for reconstructive surgery in children also poses a certain difficulty, since tissue growth can change the results obtained in the form of complete closure of the external auditory canal and/or displacement of the auricle.

At the same time, late hearing prosthetics, even with unilateral hearing loss, leads to delayed speech development of the child, difficulties in school learning, psychological and behavioral problems and, in addition, no longer brings significant benefits in terms of hearing restoration. Therefore, surgical intervention is usually planned individually for ages 6 to 11 years. Before surgical restoration of hearing function, especially with bilateral hearing loss, in order to normal development speech recommended use hearing aid, based on the perception of sound bone vibration, and in the case of the presence of an external auditory canal - a standard hearing aid.

Restoration of the auricle

The only and fairly effective option for correcting the aesthetic part of a congenital malformation is multi-stage partial or complete surgical restoration of the auricle, which takes about 1.5 years or more. Plastic reconstruction is based on such aesthetic characteristics as the size and shape of the ear, location in relation to other parts of the face, the angle between its plane and the plane of the head, the presence and position of the helix and crus of the antihelix, tragus, lobe, etc.

There are 4 fundamentally important stages surgical reconstruction, which, according to individual characteristics, may be different in terms of sequence and technical execution:

Modeling and formation of a cartilaginous frame for the future auricle. The most suitable material for this is a fragment of a healthy ear or the cartilaginous connection of the 6th, 7th, 8th ribs, from which an ear frame is modeled that is as closely as possible similar to the outlines of the ear. In addition to these materials, it is possible to use donor cartilage, silicone or polyamide implant. The use of synthetic or donor materials allows you to model the frame before surgery and save time during surgery, but their disadvantage is a high probability of rejection.
A “pocket” is formed under the skin in the area of the underdeveloped or missing ear, into which a prepared cartilage implant (frame) is installed, the healing of which lasts for 2–6 months. At this stage, the existing lobe is sometimes moved.
Creating the basis of the outer ear by separating the skin-cartilaginous-fascial block from the head tissues from the healthy postauricular region, giving it the necessary anatomical position and modeling the anatomical ear elements. Closing of the defect formed behind the ear is carried out using free skin fold or a free skin graft taken from the skin of the buttock in the area closest to the hip joint.
Raising a fully formed ear block for correction in an anatomically correct position, fixing it, additional modeling of the tragus and deepening of the auricle. The duration of the last stage is also approximately 4 – 6 months.

The recovery period may be accompanied by the formation of asymmetry between the reconstructed and healthy ear, a change in the position of the transplanted frame as a result of scar formation, etc. Correction of these complications is carried out by performing simple additional operations. In cases of microtia with atresia of the auditory canal, its surgical restoration is performed before plastic surgery.

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 deformation congenital type is a violation of fetal development 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 deformation of the auricle of this type does not affect negative influence on hearing function, it is the cause of mental and emotional state child, which is due to constant ridicule from peers.

An important point in eliminating existing defects in childhood is the child’s readiness for surgery. The best period for surgery is considered to be preschool age, but if the deformity does not affect mental condition, then 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 big size(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.

One more important criterion The classification of ear deformities is based on the degree of complexity; in medicine there are three of them:

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

In addition to congenital defects, acquired deformities of the ears occur. 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 may be the cause of transferred inflammatory diseases or injuries received, 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 quite complex operation, which is directly related to the structure of the outer 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 when preschool age when the child is not yet 7 years old. This period is due to the fact that it does not suffer psychological condition child, he is not an object of ridicule from 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 ear;
high blood pressure;
diabetes;
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:

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;
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 soft tissues auricle, and with areas of cartilage. 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 deformation and absolute restoration of the ear is necessary, the operation involves the introduction 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. At individual characteristics a rough keloid scar may form on the skin.