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Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects

✍ Scribed by Fryns, Jean-Pierre; Lorenzetti, Maria-Elena; Maroteaux, Pierre; Van den Berghe, Herman

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 14 KB
Volume: 61
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960111)61:2<164::aid-ajmg12>3.0.co;2-s

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✦ Synopsis

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 spondyloepi-metaphyseal dysplasias.

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