隐性致死性软骨发育不良，“圆形股骨下端骨骺型”
Recessive lethal chondrodysplasia, "round femoral inferior epiphysis type".
作者信息
Maroteaux P, Stanescu R, Stanescu V, Cousin J
机构信息
Unité de Recherches de Génétique Médicale (INSERM U.12), Hôpital des Enfants Malades, Paris, France.
出版信息
Eur J Pediatr. 1988 May;147(4):408-11. doi: 10.1007/BF00496421.
PMID:3396596
Abstract
Four cases of a sublethal form of chondrodysplasia are reported. The micromelic dwarfism is severe and on X-ray pictures the most striking feature is the shape of the lower femoral epiphysis, which is relatively well developed and rounded. The mode of inheritance is presumably autosomal recessive.
摘要
报告了4例亚致死型软骨发育异常病例。肢体短小侏儒症严重，X线片上最显著的特征是股骨下端骨骺的形状，其发育相对良好且呈圆形。遗传方式可能为常染色体隐性遗传。
Zotero 插件