title: Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects.
abstract: 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.
authors.affiliation: Center for Human Genetics, University of Leuven, Belgium.
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: M E
authors.initials: ME
authors.lastname: Lorenzetti
authors.forename: P
authors.initials: P
authors.lastname: Maroteaux
authors.forename: H
authors.initials: H
authors.lastname: Van den Berghe
mesh_terms: 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