Title
Stickler syndrome type I and Stapes ankylosis Stickler syndrome type I and Stapes ankylosis
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
Amsterdam ,
Subject
Human medicine
Source (journal)
International journal of pediatric otorhinolaryngology. - Amsterdam
Volume/pages
68(2004) :12 , p. 1573-1580
ISSN
0165-5876
ISI
000225323400016
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Abstract
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. Postoperatively 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.
E-info
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