Inner Ear Anomalies in Congenital Hearing Loss: Imaging, Genetics, and Associated Syndromes

Hearing loss is a common cause of childhood disability in the United States, often substantially impacting speech and language development. Unlike adults, sensorineural hearing loss in children frequently is associated with anatomic abnormalities of the inner ear, the cochleovestibular nerve, or the auditory processing centers of the brain, which can be identified with imaging. There are >300 syndromic causes of hearing impairment, and this review discusses a few of the common syndromes that have characteristic inner ear anomalies.

Learning Objectives: 1) To provide knowledge on the genetic basis of common congenital ear anomalies; 2) to identify temporal bone anomalies on imaging studies, which may indicate a particular syndrome or genetic abnormality; and 3) to increase radiologist awareness that congenital ear anomalies, in the setting of hearing loss, may not exist as isolated imaging findings and often have associations with abnormalities in other organ systems throughout the body.