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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 Miller syndrome ： ウィキペディア英語版 Miller syndrome Miller syndrome is a genetic condition also known as the Genee-Wiedemann syndrome, Wildervanck-Smith syndrome, or postaxial acrofacial dystosis. The incidence of this condition is not known, but it is considered extremely rare. It is due to a mutation in the DHODH gene. Nothing is known of its pathogenesis. ==History== This condition was first described in 1969 by Genée, who assumed the condition to be an extreme form of Treacher–Collins syndrome (dysostosis mandibulofacialis).〔Genée E. (1969) Une forme de dysostose mandibulo-faciale. J. de génét. humaine 17: 45-52〕 Wiedemann in 1975 described it as a separate entity.〔 Wiedemann H.-R. (1973) Missbildungs-Retardierungs-Syndrom mit Fehlen des 5. Strahls an Händen und Füssen, Gaumenspalte, dysplastische Ohren und Augenlidern und radioulnarer Synostose. Klinische Pädiatrie 185: 181-186〕 Further cases were reported by Wildervanck in 1975 〔Wildervanck LS (1975) Case report 28. Syndrome Identification 3(1): 1-13 〕and by Miller ''et al'' in 1979 〔Miller M, Fineman R, Smith DW (1979) Postaxial acrofacial dysostosis syndrome. J. Pediat. 95: 970-975〕 The syndrome was named the Genée-Wiedemann syndrome in 1987.〔 Opitz JM, Stickler GB (1987) The Genée-Wiedemann syndrome, an acrofacial dysostosis – further observations. Am. J. Med. Genet 971-975〕 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「Miller 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.