Stickler syndrome type I and Stapes ankylosis.
until further notice
SourceInternational Journal of Pediatric Otorhinolaryngology, 68, 12, (2004), pp. 1573-80
Article / Letter to editor
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International Journal of Pediatric Otorhinolaryngology
SubjectUMCN 3.3: Neurosensory disorders
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.
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