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Stickler syndrome type I and Stapes ankylosis
Laura W J Baijens1, Els M R De Leenheer, Henriëtte H Weekamp
1Department of Otorhinolaryngology Head and Neck Surgery, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.
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 wa seen related to the stapedectomy. A new mutation in COL2A1 gene was dectected.
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.