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

被引：0

作者：

Lee, S

Seto, M

Sie, K

Cunningham, M

机构：

[1] Univ Washington, Dept Pediat, Cunningham Lab, Seattle, WA 98159 USA

[2] Univ Washington, Dept Otolaryngol, Childrens Hosp & Reg Med Ctr, Seattle, WA 98159 USA

[3] Univ Washington, Childrens Hosp & Reg Med Ctr, Childrens Craniofacial Ctr, Seattle, WA 98159 USA

来源：

CLEFT PALATE-CRANIOFACIAL JOURNAL | 2002年 / 39卷 / 01期

关键词：

cochlear implant; craniosynostosis; Saethre-Chotzen; sensorineural hearing loss; TWIST;

D O I：

10.1597/1545-1569(2002)039<0110:ACWSCS>2.0.CO;2

中图分类号：

R78 [口腔科学];

学科分类号：

1003 ;

摘要：

Objective: 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.

引用

页码：110 / 114

页数：5

共 48 条

[1]

Aubry M, 1935, REV NEUROL-FRANCE, V63, P302

[2] DYSOSTOSIS CRANIOFACIALIS OF CROUZON . A SUMMARY OF RECENT LITERATURE AND CASE REPORTS WITH EMPHASIS ON INVOLVEMENT OF EAR [J].