[Chondrodysplasia punctata. 3 new cases and review of the Spanish literature].
Authors report three new cases of "chondrodysplasia punctata" two of them probably corresponding to Conradi-Hunerman's type and the third to rhizomelic type of Spranger. Series of cases published in Spain are reviewed. They conclude that clinic types of illness accepted according to Spranger (1971), in majority of spanish cases, have difficult application--own authors' opinion--because this differentiation does not solve clinic heterogeneity of illness. Genetics aspects of reviewed cases do not agree with expected and accepted results, probably because familiar antecedents were not well studied or genetics aspects are not yet well known.
D002806:Chondrodysplasia Punctata / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011859:Radiography
Condrodisplasia punctata. Tres nuevos casos y revisión de la literatura española.