Different types of osteochondrodysplasia in a consecutive series of newborns.
Among 14816 consecutive live births there were 7 cases of osteochondrodysplasia (incidence 1:2117). In addition there was 1 case of stippled epiphyses, possibly induced by anticonvulsive drugs taken by the mother during the pregnancy, and one case of cerebro-hepato-renal syndrome of Zellweger with roentgenological features similar to those of hypochondrodysplasia. None of 102 stillborns seen at the same time had osteochondrodysplasia. For genetic counselling an exact diagnosis is mandatory, radiological examination of the skeleton is often of decisive importance.
D000130:Achondroplasia / Q000175:diagnosis; D001344:Autopsy; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D002806:Chondrodysplasia Punctata / Q000175:diagnosis; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis; D004839:Epiphyses, Slipped / Q000175:diagnosis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis; D011859:Radiography