Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects.
We present the clinical and radiological findings in a newborn male with severe micromelic dwarfism, short neck, short and narrow upper thorax, and brachydactyly. At the age of 1 year mental development is slightly retarded. The X-ray findings of severe vertebral segmentation defects and a generalized metaphyseal skeletal dysplasia did not lead to a final, conclusive diagnosis. The present patient may be the first example of a new type of micromelic spondylo-epi-metaphyseal dysplasias.
Fryns
J P
JP
Center for Human Genetics, University of Leuven, Belgium.
Lorenzetti
M E
ME
Maroteaux
P
P
Van den Berghe
H
H
D000328:Adult; D002675:Child, Preschool; D004392:Dwarfism / Q000175:diagnosis*; D004838:Epiphyses / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging; D011859:Radiography; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging; D014034:Toes / Q000002:abnormalities