期刊
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
卷 68, 期 12, 页码 1573-1580出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.ijporl.2004.07.015
关键词
Stickler syndrome (SS); conductive; mixed and sensorineural hearing loss; stapedectomy; COL2A1 gene
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.
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