A child with Saethre-Chotzen syndrome, sensorineural hearing loss, and a TWIST mutation.

Abstract

Patients with syndromic craniosynostosis may have associated hearing deficits. A review of hearing loss associated with syndromic craniosynostosis as well as implications of cochlear implantation in the craniosynostosis patients is presented. In the literature, patients with Saethre-Chotzen syndrome have been shown to have conductive or mixed hearing losses. This case report describes a patient with Saethre-Chotzen syndrome caused by a mutation in the TWIST gene who exhibits a severe to profound sensorineural hearing loss.