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AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验