翻訳と辞書 Words near each other ・ Weingraben ・ Weingreen Museum of Biblical Antiquities ・ Weingut Dr. Heinrich Nägler ・ Weingut Fritz Haag ・ Weingut Gunderloch ・ Weingut I ・ Weingut Joh. Jos. Prüm ・ Weingut Reichsrat von Buhl ・ Weingut St. Antony ・ Weingut von Othegraven ・ Weingut Wittmann ・ Weill Cornell Medical College in Qatar ・ Weill Cornell Medicine ・ Weill Institute for Cell and Molecular Biology ・ Weiller ・ Weill–Marchesani syndrome ・ Weilmünster ・ Weilo ・ Weilrod ・ Weilroder Eller ・ Weilsberg ・ Weiltingen ・ Weilüe ・ Weil–Brezin Map ・ Weil–Châtelet group ・ Weil–Felix test ・ Weil–Petersson metric ・ WEIM ・ Weimar ・ Weimar (disambiguation) 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 Weill–Marchesani syndrome ： ウィキペディア英語版 Weill–Marchesani syndrome Weill–Marchesani syndrome (also known as Spherophakia-brachymorphia syndrome, congenital mesodermal dystrophy, and GEMSS syndrome) is a rare genetic disorder characterized by short stature; an unusually short, broad head (brachycephaly) and other facial abnormalities; hand defects, including unusually short fingers (brachydactyly); and distinctive eye (ocular) abnormalities. It was named after ophthalmologists Georges Weill (1866-1952) and Oswald Marchesani (1900-1952) who first described it in 1932 and 1939, respectively. The eye manifestations typically include unusually small, round lenses of the eyes (spherophakia), which may be prone to dislocating (ectopia lentis), as well as other ocular defects. Due to such abnormalities, affected individuals may have varying degrees of visual impairment, ranging from nearsightedness myopia to blindness. Researchers suggest that Weill–Marchesani syndrome may have autosomal recessive or autosomal dominant inheritance.〔(【引用サイトリンク】url=http://children.webmd.com/weill-marchesani-syndrome )〕 ==Diagnosis== Diagnosis is made when several characteristic clinical signs are observed. There is no single test to confirm the presence of Weill–Marchesani syndrome. Exploring family history or examining other family members may prove helpful in confirming this diagnosis. 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「Weill–Marchesani 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.