Suppr超能文献

伴有骨骺异常、侏儒症和畸形的家族性骨盆-肩胛发育不良:一种新综合征?(作者译)

[Familial pelvi-scapulary dysplasia with anomalies of the epiphyses, dwarfism and dysmorphy: a new syndrome? (author's transl)].

作者信息

Cousin J, Walbaum R, Cegarra P, Huguet J, Louis J, Pauli A, Fournier A, Fontaine G

出版信息

Arch Fr Pediatr. 1982 Mar;39(3):173-5.

PMID:7103674
Abstract

A North African brother and his sister, whose parents were first cousins, presented with the same disorder. It consisted of congenital dwarfism, facial dysmorphy and several skeletal anomalies including bilateral agenesis of the ala of scapula and hypoplasia of the ala of ilium and acetabulum, responsible for hip dislocation. No similar case was found in the literature. A recessive autosomal transmission of the disease is suggested.

摘要

一名北非男子及其妹妹患有相同病症,他们的父母是近亲。病症包括先天性侏儒症、面部畸形以及多种骨骼异常,如双侧肩胛骨翼缺如、髂骨翼和髋臼发育不全,后者导致髋关节脱位。文献中未发现类似病例。提示该病为常染色体隐性遗传。

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