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題 名 | Waardenburg氏症候群=Waardenburg's Syndrome |
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作 者 | 林鴻清; 王麟殿; 林炫沛; 林達雄; 徐銘燦; 張克昌; | 書刊名 | 中華民國耳鼻喉科醫學會雜誌 |
卷 期 | 33:4 1998.08[民87.08] |
頁 次 | 頁40-47 |
分類號 | 416.812 |
關鍵詞 | 瓦登伯革氏症候群; 虹膜異色; 聽障; Waardenburg's syndrome; Heterochromia iris; Hearing impairment; |
語 文 | 中文(Chinese) |
中文摘要 | 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 -Waardenburg,於 1951 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 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徵。約 94.4% 的第Ⅰ型、85.7% 的第 Ⅱ型、第Ⅲ及第Ⅳ型皆為 100% 表現虹膜異色。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。結論: 瓦氏症候群是先天性聽障的主 要原因之一,它在重度聽障中的發生率約為 1%。 高發生率的虹膜異色及其它色素異常的低 比率,是台灣瓦氏症候群的特徵。 |
英文摘要 | Background: The Waardenburg syndrome was firstly presented by Dutch Ophthalmologist- Waardenburg in 1951. This syndrome is characterized by heterochromia 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 Partington's data, the incidence of Waardenburg's syndrome in deafness is about 0.9% in Canada. The purpose of this study is to establish epidemiological features of Waardenburg'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 Prdiatricians. Results: Among these cases, 18 cases are type Ⅰ,7 are type Ⅱ, 2 are type Ⅲ, 4 ard 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 pigmentary disorders. About the hearing impairment, bilateral profound hearing loss is the 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 pigmetary disorders are characteristic feature of our series. |
本系統中英文摘要資訊取自各篇刊載內容。