Chondrodysplasia punctata congenita: a genetic heterogenous disease
Hack, W.W.; Derksen-Samson, J.F.; Grimberg, R.T.; van der Harten, J.J.
Tijdschrift Voor Kindergeneeskunde 52(1): 16-23
1984
ISSN/ISBN: 0376-7442 PMID: 6710469 Document Number: 228576
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.