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題名 | Van Der Woude Syndrome: A Case Report=范德沃德症候群:病例報告 |
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作者 | 張凱迪; 柯萱蓼; 張凱茹; 趙文煊; Chang, Kai-ti; Ko, Hsuan-lu; Chang, Kai-ju; Tchaou, Wen-shiun; |
期刊 | 臺灣兒童牙醫學雜誌 |
出版日期 | 20160600 |
卷期 | 16:2 2016.06[民105.06] |
頁次 | 頁46-50 |
分類號 | 417.695 |
語文 | eng |
關鍵詞 | 唇陷窩; 顎裂; 唇裂; 遺傳性唇顎裂症候群; Cleft palate; Cleft lip; Lip pits; Van der Woude syndrome; |
中文摘要 | 范德沃德症候群(Van der Woude syndrome)是一種罕見的體染色體顯性遺傳唇顎裂症候群,具有高外顯率和多變的表型。這是唇顎裂的常見原因,佔百分之二的唇裂及顎裂病例。臨床表現包括下唇雙邊中線唇陷窩(lip pits)、唇裂(cleft lip)、顎裂(cleft palate)以及先天缺牙(hypodontia)。它是少數綜合症中可以在同一家庭中同時發現唇裂和顎裂的表型。本篇病例報告描述同一家庭中患有范德沃德症候群但具有不同表型的兩個兄弟,並且探討范德沃德症候群病因、流行病學、主要臨床表現以及相關特徵。 |
英文摘要 | Van der Woude syndrome (VWS) is a rare autosomal dominant clefting syndrome with high penetrance and variable expressions. It is a common cause of syndromic orofacial clefting, accounting for 2% of cleft lip and cleft palate cases. Clinical manifestation includes bilateral lower lip pits, cleft lip, and cleft palate along with hypodontia. It is one of the few syndromes that present a mixture of cleft lip and cleft palate phenotypes in the same family. This case report presents two siblings both affected by VWS with different phenotypes, and facilitates the understanding of the etiology of malformation, epidemiology, clinical manifestations and associated features. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。