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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 Mowat–Wilson syndrome ： ウィキペディア英語版 Mowat–Wilson syndrome Mowat–Wilson syndrome is a rare genetic disorder that was clinically delineated by Dr. D. R. Mowat and Dr. M. J. Wilson in 1998. ==Presentation== This autosomal dominant disorder is characterized by a number of health defects including Hirschsprung's disease, intellectual disability, epilepsy, delayed growth and motor development, congenital heart disease, genitourinary anomalies and absence of the corpus callosum. However, Hirschsprung's disease is not present in all infants with Mowat–Wilson syndrome and therefore it is not a required diagnostic criterion.〔Todo A, Harrington JW. (New-onset seizures in infant with square facies, hypospadias, and Hirschsprung disease ). Consultant for Pediatricians. 2010;9:103-107.〕 Distinctive physical features include microcephaly, narrow chin, cupped ears with uplifted lobes with central depression, deep and widely set eyes, open mouth, wide nasal bridge and a shortened philtrum. 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「Mowat–Wilson 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.