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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Kapur–Toriello syndrome ： ウィキペディア英語版 Kapur–Toriello syndrome Kapur–Toriello syndrome is a rare autosomal recessive genetic disorder. The defining feature of Kapur–Toriello syndrome is abnormal morphology of the columella, which extends below the margin of the nares.〔Yokoyama, E., Martinez, A., Gonzalez-del Angel, A. (2008). Clinical Report Kapur–Toriello Syndrome: Further Delineation. American Journal of Medical Genetics. 146A: 2791-2793〕 == History == Kapur–Toriello syndrome was first described in Kapur and Toriello in 1991 who described a sibling pair (brother and sister) with a previously undescribed autosomal recessive disorder.〔Kapur, S., Toriello, H.V. (1991). Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies. American Journal of Medical Genetics. 15: 423–425.〕 These siblings both had severe mental retardation, cleft lip and palate, heart and intestinal anomalies, and an abnormal nose and long columella. Since their initial description of Kapur–Toriello, only three additional cases have been described. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Kapur–Toriello syndrome」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.