Ear abnormalities - Symptoms

The most common congenital malformations of the hearing organ are observed in Konigsmark, Goldenhar, Treacher-Collins, Mobius, and Nager syndromes.

In Konigsmark syndrome, microtia, atresia of the external auditory canal, and conductive hearing loss are observed. The outer ear is represented by a vertically located skin-cartilaginous ridge without an external auditory canal, the face is symmetrical, and there are no developmental defects of other organs.

Audiometry reveals conductive hearing loss of grades III-IV. Inheritance of Konigsmark syndrome occurs in an autosomal recessive manner.

In Goldenhar syndrome (oculoauriculovertebral dysplasia, hemifascial microthymia), microtia, macrostomia, impaired development of the mandibular branch, vertebral anomalies in the cervical and thoracic spine (occipital atlas, wedge-shaped vertebrae, cervical synostosis, supernumerary vertebrae) are observed. Other anomalies include epibulbar dermoid, lipodermoid, parotid glands, congenital heart disease (45% of cases), congenital cleft lip and palate (7%); most cases are considered sporadic, but autosomal dominant, autosomal recessive, and multifactorial inheritance patterns are also encountered. Manifestations of congenital ear malformations vary from complete aplasia to moderate deformation of the auricle, displaced forward and downward. The ear appendages are located from the tragus to the corner of the mouth. Audiometry reveals conductive hearing loss of grades III-IV. In 40-50% of cases, hypoplasia of the facial nerve canal is observed.

In Treacher Collins syndrome (mandibulofacial dysostosis), antimongoloid slits of the eye slits, micrognathia, macroglossia, and microtia are observed. Other manifestations of the defect are hypoplasia of the thumbs and wrist, and coloboma of the lower eyelid. Dystopia of the facial nerve canal is detected more often than in other syndromes. The type of inheritance is autosomal recessive. Audiologically, with pronounced manifestations of the syndrome, stage IV conductive hearing loss is most often diagnosed.

Classification of ear developmental anomalies

Existing classifications of congenital malformations of the hearing organ are based on clinical, etiological and pathogenetic characteristics.

S.N. Lapchenko identified local defects, hypogenesis of the organ of hearing (mild, moderate, severe severity), dysgenesis of the organ of hearing (mild, moderate, severe severity), as well as mixed forms.

R. Tanzer's classification includes five degrees of defects.

• I degree - anotia.
• II degree - complete hypoplasia (microtia):
  • A - with atresia of the external auditory canal;
  • B - without atresia of the external auditory canal.
• Grade III - hypoplasia of the middle part of the auricle.
• IV degree - hypoplasia of the upper part of the auricle;
  • A - folded ear;
  • B - ingrown ear;
  • C - complete hypoplasia of the upper third of the auricle.
• Grade V - protruding ears.

N.R. Schuknecht in his classification of auditory canal atresia divides it into types.

• Type A - atresia in the cartilaginous part of the auditory canal (meatoplasty is indicated to prevent the development of cholesteatoma).
• Type B - atresia in both the cartilaginous and bony parts of the auditory canal, hearing loss of grades II-III is recorded (surgical rehabilitation is not always successful).
• Type C - all cases of complete atresia.
• Type D - complete atresia of the auditory canal with weak pneumatization of the temporal bone, accompanied by an abnormal location of the facial nerve canal and the labyrinth capsule (hearing-improving surgeries are contraindicated).

Despite the diversity of classifications presented, most otolaryngologists prefer the Marx classification, according to which four degrees of deformation of the outer and middle ear are distinguished.

• Grade I - hypoplasia of the auricle (individual elements of the auricle are unrecognizable).
• Grade II - deformations of the auricle of varying degrees (some elements of the auricle are not differentiated).
• Grade III - auricles in the form of a small rudiment.
• IV degree - absence of the auricle.

Starting from the second degree, microtia is accompanied by an anomaly in the development of the external auditory canal.

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