Suppr超能文献

胫骨发育不全合并缺指/趾畸形/戈洛普-沃尔夫冈复合体,伴有先天性心脏畸形和其他骨骼异常。

Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities.

作者信息

Raas-Rothschild A, Nir A, Ergaz Z, Bar Ziv J, Rein A J

机构信息

The Roza and David Orzen Human Genetics Clinic, Department of Human Genetics, Jerusalem, Israel.

出版信息

Am J Med Genet. 1999 Jun 4;84(4):361-4.

Abstract

We report on a child with bifid femur, absent tibiae, hypoplastic hallux, bilateral club feet, congenital heart defects, and segmentation anomalies of the spine and ribs. Parents are consanguineous, from a region where other consanguineous families with similarly affected individuals have been reported. Clinical and genetic controversies of the tibial aplasia-ectrodactyly syndrome/Gollop-Wolfgang complex are discussed.

摘要

我们报告了一名患有双叉股骨、胫骨缺如、拇趾发育不全、双侧马蹄内翻足、先天性心脏缺陷以及脊柱和肋骨节段异常的儿童。患儿父母为近亲结婚,来自一个曾报道过其他有类似患病个体的近亲家庭的地区。本文讨论了胫骨发育不全-缺指(趾)综合征/戈洛普-沃尔夫冈综合征的临床和遗传学争议。

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