Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations.

ABSTRACT:

Background and purpose

Waardenburg syndrome, characterized by deafness and pigmentation abnormalities, is clinically and genetically heterogeneous, consisting of 4 distinct subtypes and involving several genes. SOX10 mutations have been found both in types 2 and 4 Waardenburg syndrome and neurologic variants. The purpose of this study was to evaluate both the full spectrum and relative frequencies of inner ear malformations in these patients.

Materials and methods

Fifteen patients with Waardenburg syndrome and different SOX10 mutations were studied retrospectively. Imaging was performed between February 2000 and March 2010 for cochlear implant work-up, diagnosis of hearing loss, and/or evaluation of neurologic impairment. Eleven patients had both CT and MR imaging examinatio

SUBMITTER: Elmaleh-Berges M 

PROVIDER: S-EPMC7964579 | biostudies-literature | 2013 Jun-Jul

REPOSITORIES: biostudies-literature