Chondrodysplasia punctata. Report of parent-to-child transmission.
A family with chondrodysplasia punctata of the Conradi-Hünermann type is presented. The diagnosis was not made on the affected child who died after orthopaedic surgery for the complications of the condition. The mother had undoubted stigmata of the disease, and a previous child, who died shortly after birth, might also have had the condition. Sound genetic counselling could only be offered after accurate diagnosis was made.
D000328:Adult; D002806:Chondrodysplasia Punctata / Q000000981:diagnostic imaging / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000235:genetics; D007231:Infant, Newborn; D007738:Kyphosis / Q000000981:diagnostic imaging; D017880:Limb Deformities, Congenital; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome