Stickler syndrome type I and stapes ankylosis

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. Postoperativety 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. (C) 2004 Elsevier Ireland Ltd. All rights reserved.