title: Lethal non-rhizomelic dysplasia epiphysealis punctata.
abstract: We describe two new cases of a rare form of lethal chondrodysplasia punctata (so-called X-linked dominant, non-rhizomelic form), a condition characterized by widespread multicentric stippled calcifications of the cartilaginous parts of the long bones, spine, ribs and flat bones. The mother of one of the patients had bone dysplasia consistent with the X-linked dominant form of chondrodysplasia punctata. We suggest that a skeletal survey, including lateral view of the spine, together with biochemical studies of peroxisomal status are indicated in all newborns with severe, unusual forms of chondrodysplasia punctata. In this way, accurate categorization of the lethal, non-rhizomelic types of this condition will be facilitated.
authors.affiliation: Department of Medical Imaging, New Children's Hospital, Sydney, Australia. kazimiek@chw.edu.au
authors.forename: Kazimierz
authors.initials: K
authors.lastname: Kozlowski
authors.forename: John
authors.initials: J
authors.lastname: Godlonton
authors.forename: Jessica
authors.initials: J
authors.lastname: Gardner
authors.forename: Peter
authors.initials: P
authors.lastname: Beighton
mesh_terms: D000328:Adult; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D011859:Radiography; D014960:X Chromosome