Chondrodysplasia punctata in a nine-year-old girl presenting as "unclassified multiple malformation syndrome".
A girl with chondrodysplasia punctata who showed changes consistent with "Unclassified Multiple Malformation Syndrome" at the age of 9 years is presented. The disease could not have been recognised had not the neonatal films been presented.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000367:Age Factors; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002386:Cataract / Q000150:complications; D002648:Child; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000150:complications / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D011859:Radiography; D013577:Syndrome