翻訳と辞書 Words near each other ・ Keur Momar Sarr Arrondissement ・ Keur Simbara ・ Keur-Macene ・ Keurboom Park ・ Keurbooms River ・ Keurboomstrand ・ Keurepani ・ Keurig ・ Keurig Green Mountain ・ Keurusselkä ・ Keuruu ・ Keuruu sub-region ・ Keury De La Cruz ・ KEUS ・ KEUS-LD ・ Keutel syndrome ・ Keutenberg ・ Keuthan Aircraft ・ Keutsang East Hermitage ・ Keutsang Hermitage ・ Keutschach am See ・ Keutschacher See ・ KEUV-LP ・ Keuzenkamp ・ Kev ・ Kev Adams ・ Kev Carmody ・ Kev Coghlan ・ Kev F. Sutherland ・ Kev Gray & The Gravy Train 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 Keutel syndrome ： ウィキペディア英語版 Keutel syndrome Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid-face, peripheral pulmonary stenosis, hearing loss, short distal phalanges (tips) of the fingers and mild mental retardation. Individuals with KS often present with peripheral pulmonary stenosis, brachytelephalangism, sloping forehead, midface hypoplasia, and receding chin. It is associated with abnormalities in the gene coding for matrix gla protein (MGP).〔 Being an autosomal recessive disorder, it may be inherited from two unaffected, abnormal MGP-carrying parents. Thus, people who inherit two affected MGP genes will likely inherit KS. It was first identified in 1972 as a novel rare genetic disorder sharing similar symptoms with chondrodysplasia punctata.〔 Multiple forms of chondrodysplasia punctata share symptoms consistent with KS including abnormal cartilage calcification, forceful respiration, brachytelephalangism, hypotonia, psychomotor delay, and conductive deafness, yet peripheral pulmonary stenosis remains unique to KS. No chromosomal abnormalities are reported in affected individuals, suggesting that familial consanguinity relates to the autosomal recessive mode of inheritance. Also, despite largely abnormal calcification of regions including the larynx, tracheobronchial tree, nose, pinna (anatomy), and epiglottis, patients exhibit normal serum calcium and phosphate levels. ==Signs and symptoms== Being an extremely rare autosomal genetic disorder, differential diagnosis has only led to several cases since 1972. Initial diagnosis lends itself to facial abnormalities including sloping forehead, maxillary hypoplasia, nasal bridge depression, wide mouth, dental maloclusion, and receding chin. Electroencephalography (EEG), computed tomography (CT) scanning, and skeletal survey are further required for confident diagnosis. Commonly, diffuse cartilage calcification and brachytelephalangism are identified by X-radiation (X-ray), while peripheral pulmonary arterial stenosis, hearing loss, dysmorphic facies, and mental retardation are confirmed with confidence by the aforementioned diagnostic techniques.〔 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「Keutel 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.