[Congenital epiphyseal chondrodysplasia punctata. Study of 9 cases].
Clinical data of nine cases of chondrodysplasia punctata, eight males and one female are reported. Two males presented with rhizomelic form, characterized by severe symmetrical shortness of humeri and femora, marked metaphyseal changes, severe psychomotor retardation and cataracts. Consanguinity of parents in one of these cases was consistent with homozygote for an autosomal retarded physical development starting early in life. Cataracts were absent, and psychomotor development was normal except in two cases who were severely retarded. These two cases suffered also from congenital cardiomyopathy (one case of aortic coarctation and the other of severe pulmonary hypertension without shunts). These seven cases were diagnosed of Conradi-Hunermann type which is a mild form of disease.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011596:Psychomotor Disorders / Q000209:etiology
Condrodisplasia punctata epifisaria congénita. Estudio de nueve casos.