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Developmental anomalies of the ear - Diagnosis
Last reviewed: 06.07.2025
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Instrumental research
According to most authors, the first thing an otolaryngologist should do when a child with an ear anomaly is born is to evaluate the hearing function. Objective hearing methods are used to examine young children - determining thresholds using short-latency SEP and OAE recording methods; conducting acoustic impedance analysis. In patients over 4 years of age, hearing acuity is determined by the intelligibility of spoken and whispered speech, as well as by tonal threshold audiometry. Even with a unilateral anomaly in an apparently healthy second ear, the absence of hearing impairment must be proven.
Microtia is usually accompanied by conductive hearing loss of grade III (60-70 dB). However, lesser or greater degrees of conductive and sensorineural hearing loss may be observed.
Children with a rudimentary auditory canal should be evaluated for cholesteatoma. Although visualization is difficult, otorrhea, polyp, or pain may be the first signs of cholesteatoma of the external auditory canal. In all cases of detection of cholesteatoma of the external auditory canal, the patient is indicated for surgical treatment.
Currently, to decide on the issue of surgical reconstruction of the external auditory canal and the performance of ossiculoplasty, it is recommended to rely on the data of hearing tests and CT of the temporal bone.
Detailed CT data of the temporal bone when assessing the structures of the outer, middle and inner ear in children with congenital atresia of the external auditory canal are necessary to assess the technical feasibility of forming the external auditory canal, the prospects for improving hearing, and assess the degree of risk of the upcoming surgery. Some typical anomalies are listed below.
Congenital anomalies of the inner ear can only be confirmed by CT of the temporal bones. The most well-known of these are Mondini anomaly, stenosis of the labyrinthine windows, stenosis of the internal auditory canal, anomalies of the semicircular canals up to their absence.
Indications for consultation with other specialists
In case of congenital ear defects, medical genetic testing and consultation with a maxillofacial surgeon are indicated.
The main task of medical genetic counseling for any hereditary diseases is to diagnose syndromes and establish empirical risk. The genetic consultant collects a family history, compiles a medical pedigree of the family of those consulted, conducts examinations of the proband, siblings, parents and other relatives. Specific genetic studies should include dermatoglyphics, karyotyping, and determination of sex chromosomal protein.
In patients with Treacher Collins and Goldenhar syndromes, in addition to microtia and atresia of the external auditory canal, there are developmental disorders of the facial skeleton due to hypoplasia of the mandibular branch and temporomandibular joint. Such patients are recommended to consult a maxillofacial surgeon and orthodontist to decide on the need for retraction of the mandibular branch. Correction of congenital underdevelopment of the mandible significantly improves the appearance of patients. Thus, in cases of detection of microtia as a hymn of the volume in the presence of congenital hereditary pathology of the lin zone, consultations of maxillofacial surgeons should be included in the rehabilitation complex of patients with microtia.
Differential diagnostics of ear developmental anomalies
Differential diagnostics of congenital developmental anomalies is difficult only in the case of local malformations of the auditory ossicles. It should be differentiated from exudative otitis media, post-traumatic rupture of the auditory ossicle chain, and tumors of the middle ear.
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