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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 Adducted thumb syndrome ： ウィキペディア英語版 Adducted thumb syndrome Adducted thumb syndrome recessive form, also known as Christian syndrome or Craniostenosis arthrogryposis cleft palate, is a rare disease affecting multiple systems which causes malformations of the palate, thumbs, and upper limbs. The name Christian syndrome derives from Joe. C. Christian the first person to describe the condition. Christian-Andrews-Conneally-Muller syndrome is another term, named after the other authors (P. A. Andrews, P. M. Conneally and Jans Muller) of the original publication.〔http://www.whonamedit.com/synd.cfm/1193.html〕 It is an autosomal recessive connective tissue disorder characterized by congenital malformations, contractures of the thumb and feet, a typical facial appearance, and normal cognitive development. This is caused by mutation in the CHST14 (CARBOHYDRATE SULFOTRANSFERASE 14) gene〔http://www.checkorphan.org/disease/adducted-thumb-syndrome-recessive-form〕 ==Applied== *Male and female cousins, the offspring of consanguineous Turkish parents, have been affected by a hitherto unreported combination of problems comprising moderate to severe psychomotor developmental delay, ocular anterior chamber abnormality, facial dysmorphisms (broad, bossed forehead, late-closing fontanelle, telecanthus, downslanting palpebral fissures, posteriorly rotated ears, downturned angles of mouth), arachnodactyly and distal arthrogryposis with severely adducted thumbs and club feet. This striking phenotype has some similarities with the multiple pterygium syndrome (Escobar syndrome), but it most likely represents a distinct condition caused by an autosomal recessive gene defect. *A female newborn baby with a "myopathic" stiff face, open mouth, high-arched palate, microgenia, generalized muscular hypotonia, limited extension of elbows, wrists and knees, flexed adducted thumbs, velopharyngeal insufficiency, and hypertrichosis. Death occurred at 3 months due to respiratory insufficiency. Muscular biopsy revealed myopathic abnormalities. 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「Adducted thumb 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.