Suppr超能文献

软骨发育不全:一个受累家庭的表现(作者译)

[Hypochondroplasia: an effected family presentation (author's transl)].

作者信息

Navarro González J, Cintado Bueno C, Tomás Pérez M, Cortada Ruiz-Azcárraga A

出版信息

An Esp Pediatr. 1977 Feb;10(2):173-86.

PMID:301369
Abstract

A family suffering from hypochondroplasia in which father, mother and offspring are affected and in whose family tree various probably affected members are found on both sides, according to a pattern of autosomic dominant heritage is presented. The difficulty of diagnosis is discussed, not only in the first years of life but also later on, and in mild or moderate forms, which may in part explain the few cases reported in the literature.

摘要

本文报道了一个患软骨发育不全的家族,其中父亲、母亲和后代均受影响,根据常染色体显性遗传模式,在其家族谱系中,两侧均发现了各种可能受影响的成员。文中讨论了诊断的困难,不仅在生命的最初几年,而且在后期,以及在轻度或中度形式中,这可能部分解释了文献中报道的病例较少的原因。

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