摘要
Marshall氏症候群(Marshall syndrome)是一種自體顯性遺傳疾病。主要的臨床症狀包括有顱顏及骨骼異常、白內障、嚴重近視及聽力障礙。本病症的聽力障礙屬於感覺神經性，特色為早期發作、漸進性、高頻聽力喪失較嚴重。本科在2004年4月經歷一對母子病患，共同表現有顱顏異常及感覺神經性聽力障礙。在眼科症狀方面，母親患有白內障、青光眼及高度近視，兒子則被診斷有視神經病變。根據病患的臨床症狀及家族史，診斷為Marshall氏症候群。
並列摘要
The Marshall syndrome is a rare autosomal dominantly inherited disorder, which characterized by craniofacial and skeletal anomalies, cataract, severe myopia and hearing loss. The hearing defect in Marshall syndrome is of cochlear origin that primarily affects high frequency area and the symptoms are usually progressive. Back in April, 2002, we encountered a mother and her son with symptoms of saddle nose, ocular hypertelorism, and hearing loss. In ophthalmologic presentation, the mother has congenital cataract, myopia and the son was also diagnosed as ophthalmoneuropathy. The results of pure tone audiometry, vestibular function tests, and radiological imaging were all compatible with hearing loss of cochlear origin. According to the family history and presented symptoms, they were diagnosed as cases of Marshall syndrome.
延伸閱讀
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