来自西班牙的一例新的纤维软骨生成病例。

A new case of fibrochondrogenesis from Spain.

作者信息

Martínez-Frías M L, García A, Cuevas J, Rodríguez J I, Urioste M

机构信息

ECEMC, Facultad de Medicina, Universidad Complutens, Madrid, Spain.

出版信息

J Med Genet. 1996 May;33(5):429-31. doi: 10.1136/jmg.33.5.429.

DOI:10.1136/jmg.33.5.429

PMID:8733059

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050618/

Abstract

A rare, neonatally lethal chondrodysplasia with histological characteristics was first described in 1978 and the authors named the condition fibrochondrogenesis. Here we report the eighth published case of fibrochondrogenesis. This was identified in a population of 1,158,067 consecutive livebirths, so we can assume that this figure should be the minimal prevalence for livebirths.

摘要

一种具有组织学特征的罕见的、新生儿期致死性软骨发育异常于1978年首次被描述，作者将这种病症命名为纤维软骨生成。在此我们报告纤维软骨生成的第八个已发表病例。该病例是在连续1,158,067例活产人群中发现的，所以我们可以认为这个数字应该是活产中的最低患病率。