|
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
|
|
|
DOI
|
|
|
|
10.1016/J.IJPORL.2004.07.015
|
|
|
Volume/pages
|
|
|
|
68
:12
(2004)
, p. 1573-1580
|
|
|
ISI
|
|
|
|
000225323400016
|
|
|
Full text (Publisher's DOI)
|
|
|
|
|
|
|
Full text (publisher's version - intranet only)
|
|
|
|
|
|