Lethal non-rhizomelic dysplasia epiphysealis punctata.
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.
Kozlowski
Kazimierz
K
Department of Medical Imaging, New Children's Hospital, Sydney, Australia. kazimiek@chw.edu.au
Godlonton
John
J
Gardner
Jessica
J
Beighton
Peter
P
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