Maroteaux P, Stanescu R, Stanescu V, Cousin J
Unité de Recherches de Génétique Médicale (INSERM U.12), Hôpital des Enfants Malades, Paris, France.
Eur J Pediatr. 1988 May;147(4):408-11. doi: 10.1007/BF00496421.
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.
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。
