title: [Chondrodysplasia punctata congenita: a genetic heterogenous disease].
abstract: 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.
mesh_terms: D000328:Adult; D000900:Anti-Bacterial Agents / Q000009:adverse effects; D002806:Chondrodysplasia Punctata / Q000145:classification / Q000000981:diagnostic imaging* / Q000473:pathology; D005260:Female; D005269:Femur / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007710:Klebsiella Infections / Q000188:drug therapy; D010198:Pancytopenia / Q000139:chemically induced; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000139:chemically induced; D011251:Pregnancy Complications, Infectious / Q000188:drug therapy; D011859:Radiography
chemical_list: D000900:Anti-Bacterial Agents
vernacular_title: Chondrodysplasia punctata congenita: een genetisch heterogeen ziektebeeld.