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題 名 | Variable Expressivity in a Family with Kabuki Make-up (Niikawa-Kuroki) Syndrome=一歌舞伎症(Niikawa-Kuroki二氏症)家族之臨床變異 |
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作 者 | 侯家瑋; | 書刊名 | 長庚醫學 |
卷 期 | 27:4 2004.04[民93.04] |
頁 次 | 頁307-311 |
分類號 | 417.132 |
關鍵詞 | 歌舞伎症; Niikawa-Kuroki二氏症; 嘴唇小孔; van der Woude氏症; Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Lip pit; van der Woude syndrome; |
語 文 | 英文(English) |
中文摘要 | 歌舞伎症,又名Niikawa-Kurokir二氏症,是一種成因不明的罕見先天疾病,乃以其特殊臉型五官類似歌舞伎劇演者為名,本病多為散發性,家族內發生在臺灣尚未報告過。本文描述在同一家庭4名歌舞伎症之臨床變異,除了類似的臉部特徵外,其中3名有顎裂或唇裂,1名則有極罕見的下嘴唇小孔合併生長激素缺乏症,另1名則有單側小耳症。高解析度染色體檢查並無異常。這些發現顯示歌舞伎症常染色體顯性遺傳,而且與van der Woude氏症表現型有重疊。 |
英文摘要 | Kabuki make-up syndrome (KS), also called Nikawa-Kuroki syndrome, is a rare congenital disorder of unknown etiology. Most KS cases occur sporadically and familial KS had never been reported in Taiwan. Describe four individuals in one family with KS. Significant intrafamilial variablility in the clinical expression of this syndrome is evident. In addition to the typical craniofacial dysmorphism and cleft plate and/or cleft lip that the three children inherited from their father, rare anomalies such as lower lip pits and growth hormone deficiency in one girl and right-sided acrotia in one boy were noted. High-resolution banding did not detect any charomosomal structural anomalies. These findings further suggested the autosomal inheritance (form the father to two sons and one daughter) in KS and highlighted the overlapping phenotype with van der woude syndrome. |
本系統中英文摘要資訊取自各篇刊載內容。