Syndromic Hearing Loss in Children

Abstract

Pattern recognition of specific temporal bone radiological phenotypes, in association with abnormalities in other organ systems, is critical in the diagnosis and management of syndromic causes of hearing loss. Several recent publications have demonstrated the presence of specific radiological appearances, allowing precise genetic and/or syndromic diagnosis, in the right clinical context. This review article aims to provide an extensive but practical guide to the radiologist dealing with syndromic causes of hearing loss.

Keywords: Branchiootorenal syndrome; CHARGE; Deafness; Pendred syndrome; Sensorineural hearing loss (SNHL); Syndromic hearing loss.