Stickler syndrome type I and Stapes ankylosis.
- Baijens, L.W.
- Leenheer, E. de
- Weekamp, H.
- Cruysberg, J.R.M.
- Mortier, G.R.
- Cremers, C.W.R.J.
DOIAbstract
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 hear...
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