Publication
Title
Stickler syndrome type I and Stapes ankylosis
Author
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.
Language
English
Source (journal)
International journal of pediatric otorhinolaryngology. - Amsterdam
Publication
Amsterdam : 2004
ISSN
0165-5876
Volume/pages
68:12(2004), p. 1573-1580
ISI
000225323400016
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 05.06.2012
Last edited 30.05.2017