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Stickler syndrome type I and Stapes ankylosis
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| Author |
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| Abstract |
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| 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. | |
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| Language |
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English
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| Source (journal) |
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International journal of pediatric otorhinolaryngology. - Amsterdam |
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| Publication |
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Amsterdam : 2004
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| ISSN |
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0165-5876
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| Volume/pages |
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68:12(2004), p. 1573-1580
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| ISI |
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000225323400016
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| Full text (Publishers DOI) |
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