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.

Saethre–Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome

“…16,19 Sensorineural hearing deficit was exclusively noted in our patients with Muenke's syndrome, and has only rarely been reported in SCS. 35 In summary, our study suggests that with regard to clinical management and genetic counselling, patients with putative SCS or Muenke phenotypes would benefit more from splitting than from lumping.…”

Cochlear Implantation in a Patient With Pfeiffer Syndrome and Temporal Bone Vascular Anomalies

“…Hearing loss is a variable finding in patients with syndromic craniosynostosis (3). Although most patients experience conductive losses because of Eustachian tube dysfunction, sensorineural hearing loss has been described in Pfeiffer, Crouzon, Carpenter, and Fryns syndromes, and acrocraniofacial dysostosis (2,3).…”

“…Conductive hearing loss is a common finding in craniosynostotic syndromes and results from stenotic or atretic external auditory canals, chronic otitis media, or ossicular malformations (2). Profound sensorineural hearing loss requiring cochlear implantation in these patients is infrequent, and necessitates thoughtful surgical planning given the possibility of abnormal temporal bone anatomy and aberrant venous drainage patterns (3). Herein, we present imaging findings of a Pfeiffer syndrome patient with impressive, bilateral temporal bone, and venous anomalies that prohibited traditional transmastoid cochlear implantation.…”

Aspectos sobre desenvolvimento de linguagem oral em craniossinostoses sindrômicas

“…In general, craniosynostosis presents a prevalence of 0.4 to 1/1000 individuals and may be defined as premature closure of one or more cranial sutures, resulting in an abnormally shaped skull and various side effects such as cranial hypertension, reduced cerebral blood flow, airway obstruction, reduced visual and hearing acuity, learning deficit and psychological disorders Alonso, 1997;Cohen e Gorlin, 1997;Cohen and Maclean, 2000;Lee et al, 2002). The mechanism of cranial suture formation is a process that is balanced by proteins that stimulate and inhibit the growth process.…”