Stickler syndrome type I and stapes ankylosis

被引：12

作者：

Baijens, LWJ

De Leenheer, EMR

Weekamp, HH

Cruysberg, JRM

Mortier, GR

Cremers, CWRJ

机构：

[1] Univ Nijmegen, Ctr Med, Dept Otolaryngol Head & Neck Surg, NL-6500 HB Nijmegen, Netherlands

[2] Univ Nijmegen, Ctr Med, Dept Pathol, NL-6500 HB Nijmegen, Netherlands

[3] Univ Nijmegen, Ctr Med, Dept Ophthalmol, NL-6500 HB Nijmegen, Netherlands

[4] State Univ Ghent Hosp, Dept Otorhinolaryngol Head & Neck Surg, B-9000 Ghent, Belgium

[5] State Univ Ghent Hosp, Dept Med Genet, B-9000 Ghent, Belgium

来源：

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY | 2004年 / 68卷 / 12期

关键词：

Stickler syndrome (SS); conductive; mixed and sensorineural hearing loss; stapedectomy; COL2A1; gene;

D O I：

10.1016/j.ijporl.2004.07.015

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

Objective: To report a successful stapedectomy for stapedial fixation in a patient with Stickler syndrome type I (COL2A1). Setting: University Hospital Department for Otology, Pathology, Ophthalmology and Clinical Genetics. Study design: A clinical and genetic evaluation of a mother and daughter focusing mainly on the otological, ophthalmological, histological. and genetical. aspects. Intervention: A stapedectomy was performed successfully. Results: Hearing impairment improved after stapedectomy. Postoperativety a shift in high-frequency threshold was seen related to the stapedectomy. A new mutation in COL2A1 gene was detected. Conclusion: Stapedial. fixation can be the cause of hearing impairment in Stickler syndrome type I (COL2A1). The hearing impairment can be improved by stapes surgery. (C) 2004 Elsevier Ireland Ltd. All rights reserved.

引用

页码：1573 / 1580

页数：8

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