title: Case report. Case 1 (Conradi syndrome, autosomal dominant type).
mesh_terms: D002806:Chondrodysplasia Punctata / Q000000981:diagnostic imaging / Q000235:genetics*; D002904:Chromosomes, Human, 21-22 and Y; D003937:Diagnosis, Differential; D005145:Face; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D011859:Radiography