翻訳と辞書 Words near each other ・ Five Banis ・ Five Barbarians ・ Five Bathing Women at a Lake ・ Five Bells (novel) ・ Five Below ・ Five Billion Years of Change ・ Five Billion Years of Solitude ・ Five Black Categories ・ Five Blind Boys ・ Five Blind Boys of Mississippi ・ Five Block, West Virginia ・ Five Boro Bike Tour ・ Five Boroughs of the Danelaw ・ Five Boys from Barska Street ・ Five Branches University ・ Fitzsimmons–Guilbert syndrome ・ Fitzsimon ・ Fitzsimons ・ Fitzsimons Army Medical Center ・ Fitzstephen ・ Fitzstephen French ・ FitzSymond ・ FitzThomas ・ Fitzwarren ・ Fitzwater ・ Fitzwater Station ・ Fitzwatertown, Pennsylvania ・ Fitzwillia ・ Fitzwilliam ・ Fitzwilliam College Boat Club Dictionary Lists mini英和辞書 mini和英辞書 Webster 1913 Latin-English FOLDOC Wikipedia English ウィキペディア

翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Fitzsimmons–Guilbert syndrome ： ウィキペディア英語版 Fitzsimmons–Guilbert syndrome Fitzsimmons–Guilbert syndrome is an extremely rare genetic disease characterized by a slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal–phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit.〔(【引用サイトリンク】 work = ORPHANET )〕 ==History== Fitzsimmons and Guilbert first described male uniovular twins, aged 20 years, who had had slowly progressive spastic paraplegia from early in life. Both had skeletal abnormalities of the hands and feet: brachydactyly, cone-shaped epiphyses, and an abnormal metaphyseal-phalangeal pattern profile. In addition, they had nonspecific dysarthria and low-normal intellectual capacity.〔 Since the original report, three more cases have been described, including two (Lacassie ''et al.'') with a more severe mental retardation and a different metacarpal-phalangeal pattern profile, though these cases may represent a new disease entity. 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「Fitzsimmons–Guilbert 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.