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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 Melnick–Needles syndrome ： ウィキペディア英語版 Melnick–Needles syndrome Melnick–Needles syndrome (MNS), also known as Melnick–Needles osteodysplasty, is an extremely rare congenital disorder that affects primarily bone development. Patients with Melnick–Needles syndrome have typical faces (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull. In males, the disorder is nearly always lethal in infancy. Lifespan of female patients might not be affected. Melnick–Needles syndrome is associated with mutations in the ''FLNA'' gene and is inherited in an X-linked dominant manner. As with many genetic disorders, there is no known cure to MNS. The disorder was first described by John C. Melnick and Carl F. Needles in 1966 in two multi-generational families. == References == 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「Melnick–Needles 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.