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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 Pfeiffer syndrome ： ウィキペディア英語版 Pfeiffer syndrome __NOTOC__ Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face.〔James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0-7216-2921-0.〕 Pfeiffer syndrome also affects bones in the hands and feet. It is named after Rudolf Arthur Pfeiffer (b. 1931) who, in 1964, described a list of features that included a coronal synostosis, turribrachycephaly (high prominent forehead) and maxillary hypoplasia (eyes with a bulging appearance due to small underlying cheek bones). Pfeiffer syndrome affects about 1 in 100,000 births. ==Genetics== Pfeiffer syndrome is strongly associated with mutations of Fibroblast growth factor receptor 1 and 2. These receptors are important for normal bone development. 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「Pfeiffer 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.