title: Chondrodysplasia punctata: further evidence of heterogeneity.
abstract: 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.
authors.affiliation: Regional Genetic Service, St Mary's Hospital, Manchester, UK.
authors.forename: A M
authors.initials: AM
authors.lastname: Norman
authors.forename: S
authors.initials: S
authors.lastname: Jivani
authors.forename: H M
authors.initials: HM
authors.lastname: Kingston
mesh_terms: 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