Chondrodysplasia punctata: further evidence of heterogeneity.
We describe a patient with chondrodysplasia punctata. He had stippled epiphyses and coronal clefting of the vertebral bodies. No peroxisomal abnormalities were detected. His facial appearance and X-rays were suggestive of the Sheffield type of chondrodysplasia punctata. This type of chondrodysplasia punctata appears to be a heterogeneous group.
Norman
A M
AM
Regional Genetic Service, St Mary's Hospital, Manchester, UK.
Jivani
S
S
Kingston
H M
HM
D002806:Chondrodysplasia Punctata / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005528:Foot / Q000000981:diagnostic imaging; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging