Suppr超能文献

第二部分. 先天性肌发育不全:先天性肌发育不全中的双胎妊娠——一种特定类型的关节挛缩症,明显存在受影响程度不一致的同卵双胞胎比例过高的情况。

Part II. Amyoplasia: twinning in amyoplasia--a specific type of arthrogryposis with an apparent excess of discordantly affected identical twins.

作者信息

Hall J G, Reed S D, McGillivray B C, Herrmann J, Partington M W, Schinzel A, Shapiro J, Weaver D D

出版信息

Am J Med Genet. 1983 Aug;15(4):591-9. doi: 10.1002/ajmg.1320150408.

Abstract

We report on 11 cases of amyoplasia in one of identical twins. In total, 135 patients with amyoplasia were ascertained from a study of 350 patients with multiple congenital joint contractures (arthrogryposis). These 11 cases of identical twins with amyoplasia represent 8% of our patients with amyoplasia. At least 18 sets of twins with congenital contractures have been reported previously. However, only four of these appear to involve identical twins discordant for amyoplasia. Thus, 15 cases in which only one of identical twins are affected with amyoplasia have been identified.

摘要

我们报告了一对同卵双胞胎中出现的11例先天性肌发育不全病例。在一项对350例多发性先天性关节挛缩(关节弯曲)患者的研究中,总共确诊了135例先天性肌发育不全患者。这11例同卵双胞胎先天性肌发育不全病例占我们先天性肌发育不全患者的8%。此前已有至少18对患有先天性挛缩的双胞胎的报道。然而,其中似乎只有4对是同卵双胞胎,且其中一个患有先天性肌发育不全。因此,已确定有15例同卵双胞胎中只有一个患有先天性肌发育不全。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验