Jp. Fryns et al., MICROMELIC DWARFISM WITH CONE EPIPHYSES, METAPHYSEAL DYSPLASIA, AND VERTEBRAL SEGMENTATION DEFECTS, American journal of medical genetics, 61(2), 1996, pp. 164-167
We present the clinical and radiological findings in a newborn male wi
th severe micromelic dwarfism, short neck, short and narrow upper thor
ax, and brachydactyly. At the age of 1 year mental development is slig
htly retarded. The X-ray findings of severe vertebral segmentation def
ects and a generalized metaphyseal skeletal dysplasia did not lead to
a final, conclusive diagnosis. The present patient may be the first ex
ample of a new type of micromelic spondyloepi-metaphyseal dysplasias.
(C) 1996 Wiley-Liss, Inc.