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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 Bohring–Opitz syndrome ： ウィキペディア英語版 Bohring–Opitz syndrome Bohring–Opitz syndrome (BOS) is a medical syndrome characterised by characteristic craniofacial appearance, fixed contractures of the upper limbs, abnormal posture, feeding difficulties, intellectual disability, small size at birth, and failure to thrive. Some of these features are shared with other genetic syndromes. Genetically, de novo truncating mutations in ASXL1 have been shown to account for approximately 50% of Bohring–Opitz syndrome cases. One infant was followed from birth, and became the oldest patient reported with Bohring–Opitz syndrome. Although this disease is often fatal in early childhood (mainly because of obstructive apnoea and unexplained bradycardia), this female patient received best available care and survived with significant psychomotor retardation to the age of 5 years 9 months at the time of the publication in 2009. Bohring–Opitz syndrome is sometimes also called Oberklaid–Danks syndrome. == References == 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「Bohring–Opitz 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.