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Waardenburg症候群－病例報告
Waardenburg Syndrome-A Case Report
摘要
本篇報告一位八歲國小女童，先天雙側感音性耳聾，臉部外觀明顯可見雙眼虹膜異色，眼內眥間距過大合併下淚孔外移，鼻根部寬廣，兩眉間內側多毛形成一字眉，左眼眼底檢查可見明顯脈絡膜血管，呈現色素低下。經由病史、家族史的詢問及眼、耳鼻喉科理學檢查，診斷為Waardenburg症候群。本文亦討論此症候群之臨床表徵、遺傳形式、分類及診斷。
關鍵字
無資料並列摘要
We report an eight-year-old girl who presents bilateral congenital sensorineural hearing loss and prominent left heterochromia iridis. Besides, there are some distinct facial characteristics such as lateral displacement of the medial canthi combined with distopia of the lacrimal puncta, broad nasal root and confluent eyebrows. Her left blue eye also shows prominent choroidal vasculature as an albinotic fundus. After detailed examination and inquiry about family history, Waardenburg syndrome is diagnosed. The clinical manifestations, mode of inheritance, diagnostic criteria and clinical classification of Waardenburg syndrome are also addressed.
延伸閱讀
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