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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 Acropectoral syndrome ： ウィキペディア英語版 Acropectoral syndrome Acropectoral syndrome is an autosomal dominant skeletal dysplasia syndrome affecting the hands, feet, sternum, and lumbosacral spine. A recently proposed candidate gene for preaxial polydactyly is LMBR1, encoding a novel transmembrane receptor, which may be an upstream regulator of SHH. The LMBR1 gene is on human chromosome 7q36. ==Summary== Other names for acropectoral syndrome include ACRPS, Syndactyly, preaxial polydactyly and sternal deformity, and ACRP syndrome. This syndrome is characterized by syndactyly of all fingers/toes, pre axial polydactyly in the hands/feet, and upper sternum malformations. More specifically affected individuals show soft tissue syndactyly of all fingers and toes.〔(【引用サイトリンク】url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN )〕 14 out of the 22 individuals had pre axial polydactyly, as well had a blind-ending U-shaped sinus in the chest wall or a prominent upper sternum. Other symptoms included an extra big toe and an extra thumb (6). Treatment of individuals affected with this syndrome include oral pathology, facial and limb plastic surgery, and pediatric otolaryngology (7). This syndrome is different than acropectorovertebral dysplasia because the vertebral anomalies seen in acropectorovertebral dysplasia were not observed in these patients. This syndrome also differed from acropectorovertebral dysplasia because of the carpal, tarsal, and metatarsal synostoses as well as the preaxial polydactyly that occurred in the feet as well as in the hands. Soft tissue syndactyly was more prominent that in acropectorovertebral dysplasia.〔(【引用サイトリンク】url=http://omim.org/entry/605967 )〕 The limb defects seen in acrpectoral syndrome are also similar to those that occur in other dominantly inherited types of preaxial polydactyly, including preaxial polydactyly type II (PPD2), preaxial polydactyly type III (PPD3) and triphalangeal thumb- polysyndactyly (TPT-PS).〔 Acropectoral syndrome is autosomal dominant and best described in 22 patients of a Turkish family spanning six generations. The prevalence of this disease is less than 1 in 1 million.〔 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「Acropectoral 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.