
The study identified inner and middle ear anomalies in children with 22q11.2 deletion syndrome (22q11DS) and determined associations with hearing thresholds. Twenty-two patients (12 female, 10 male) were identified. Forty-four ears were evaluated on imaging. There were 15 (34%) ears with abnormal semicircular canals, 14 (32%) with abnormal vestibules, 8 (18%) with abnormal ossicles, 6 (14%) with enlarged vestibular aqueducts, 4 (9.1%) with abnormal facial nerve canals, and 4 (9.1%) with cochlear anomalies. There were 25 ears with imaging and audiometric data. Semicircular canal, ossicular, vestibular aqueduct, and vestibular anomalies were detected in children with 22q11DS, especially in the setting of hearing loss. Careful evaluation of anatomic anomalies is needed prior to surgical intervention in these patients.
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