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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 CHARGE syndrome ： ウィキペディア英語版 CHARGE syndrome CHARGE syndrome (formerly known as CHARGE association), is a syndrome caused by a genetic disorder. It was first described in 1979. In 1981, the term "CHARGE" came into use as an acronym for the set of unusual congenital features seen in a number of newborn children. The letters stand for: coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness. These features are no longer used in making a diagnosis of CHARGE syndrome, but the name remains. CHARGE syndrome is the leading cause of congenital deafblindness.〔(National Deaf-Blind Child Count Summary )〕 ==History == Dr. B.D. Hall first described the CHARGE association in a 1979 journal paper about 17 children who had all been born with choanal atresia. About the same time, Dr. H.M. Hittner also observed that the group of 10 children in a study all had choanal atresia as well as coloboma, congenital heart defect, and hearing loss. Using both a coloboma or choanal atresia and some of the other related characteristic malformations, Dr. R. A. Pagon first coined the term CHARGE.〔 In choosing this acronym, Dr. Pagon intended to emphasize that this cluster of associated malformations occurred together. It soon came to be recognised as a syndrome within the umbrella of the CHARGE association. While an association is a set of apparently random signs occurring together, the signs seen in CHARGE are caused by a genetic anomaly and so its name was officially corrected to 'CHARGE syndrome'. 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「CHARGE 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.