Table 1.

Principal hereditary syndromes commonly associated with SNHL and IEMs (see references 4,6,35) and their specific related imaging findings. PSCC: posterior semicircular canal; LSCC: lateral semicircular canal; IAC: internal auditory canal; IP-III: incomplete partitions type III

Hereditary syndrome associated with SNHL	Related imaging findings
Alagille syndrome	Absence of the PSCC with normal-appearing LSCC
Branchio-oto-renal syndrome	Cochlear hypoplasia (apical turn); abnormal course of the facial nerve canal; funnel-shaped IAC with large porus acousticus; vestibular dysplasia; SCC hypoplasia; enlargement of the vestibular aqueduct; cochlear nerve deficiency
CHARGE syndrome	SCCs aplasia with associated vestibular dysplasia; cochlear nerve deficiency with atresia of the cochlear aperture; abnormalities of cochlear partitioning
Pendred syndrome	Modiolar deficiency; vestibular enlargement; absence of the interscalar septum between the upper and middle cochlear turn; endolymphatic sac enlargement
Waardenburg syndrome	Vestibular aqueduct enlargement; widening of the upper vestibule; IAC hypoplasia; decreased modiolus size; aplasia or hypoplasia of the PSCC
X-linked hearing loss with stapes gusher	Enlarged bulbous IACs; IP-III; widening of the bony canal for the labyrinthine segment of the facial nerve; dilation of the vestibular aqueducts