Hack W W, Derksen-Samson J F, Grimberg R T, van der Harten J J
Tijdschr Kindergeneeskd. 1984 Feb;52(1):16-23.
Chondrodysplasia punctata congenita is an entity of genetic heterogeneity characterized by the presence of stippled epiphyseal and extra-epiphyseal calcifications in roentgenograms. There are at least three distinct types which differ in their mode of inheritance: the autosomal recessive, the X-linked dominant and the autosomal dominant type. Recently a mesomelic type has been recognized. Its mode of inheritance is not known. A case of chondrodysplasia punctata congenita is presented with its signs and symptoms. The pregnancy was complicated by a sepsis. The mother used several drugs. The classification of the child which died after two days is difficult; she probably belongs to the mesomelic type. The diagnosis chondrodysplasia punctata congenita is mainly based on radiological examinations.
先天性点状软骨发育不良是一种具有遗传异质性的疾病，其特征为X线片上出现骨骺和骨骺外钙化点。至少有三种不同类型，它们的遗传方式不同：常染色体隐性遗传型、X连锁显性遗传型和常染色体显性遗传型。最近又确认了一种肢中段型。其遗传方式尚不清楚。本文报告了一例先天性点状软骨发育不良的病例及其体征和症状。该孕妇并发败血症，母亲使用了多种药物。对出生两天后死亡的患儿进行分型很困难，她可能属于肢中段型。先天性点状软骨发育不良的诊断主要基于影像学检查。
