摘要
背景：瓦登伯革氏症候群（Waardenburg’s syndrome，簡稱瓦氏症候群）為荷蘭的眼科及遺傳科醫師－Warrdenburg，於1951年年首先提出。其特徵有額前白髮、虹膜異色、皮膚白斑、內眥外移（dystopia canthorum）、及先天性聽障。此症候群為體染色體遺傳，且個案的表現變異性甚大。瓦登伯革症候群是先天性聽障的主要原因之一。 方法：本院兩年來收集了38名瓦氏症候群之病例，所有的病患皆經過耳鼻喉或小兒科醫師的檢查，並符合1992年Farrer等所提出的診斷要件。 結果：所有病患中，男女各佔19名，平均年齡9.3歲。第Ⅰ型有18名、第Ⅱ型7名、第Ⅲ型2名、第Ⅳ型4名、因資料不足無法分類者7名，臨床表現上虹膜異色的高發生率是一項特微。約94.4%的第Ⅰ型、85.7%的第Ⅱ型、第Ⅲ型及第Ⅳ型100%表現虹膜色。但相較於虹膜異色，其它色素異常，就沒有如此高的表現比率。聽力障礙方面，73%的第Ⅰ型、67%的第Ⅱ型、及所有第Ⅲ型第Ⅳ型皆有聽力障礙的表現。其中又以兩側及重度聽障居大多數。
並列摘要
Background: The Waardenburg syndrome was firstly presented by Dutch Ophthalmologist – Waardenburg in 1951. This syndrome is characterized by hete-rochromia iris, dystopia canthorum, white forelock, depigmentation of skin and congenital hearing impairment. The Waardenburg’s syndrome is one of major causes of congenital hearing impairment. According to Partigtion’s data, the incidence of Waardenburg’s syndrome in deafness is about 0.9% in Canada. The purpose of the study is to establish epidemiological features of Warrdenburg’s syndrome in Taiwan. Methods: We have collected 38 cases of Waardenburg’s syndrome in two years. All the cases were checked by Otolaryngologists or Pediatricians. Results: Among these cases, 18 cases are type Ⅰ ,7 are type II , 2 are type III, 4 are type IV , and 7 are unclassified due to incomplete study. The most characteristic features are high penetration rate of heterochromia iris but low penetra on rate of other pimentary disorders. About the hearing impairment, bilateral profound hearing loss commonest pattern – 84%. Conclusions: the Waardenburg syndrome is one of major cause of congenital hearing impairment. The incidence of Waardenburg’s syndrome in profound hearing loss is about 1%. Higher penetration rate of heterochromia iris and lower rate of other pigmentary disorders are characteristic feature of our series.]
延伸閱讀
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