MICROMELIC DWARFISM WITH CONE EPIPHYSES, METAPHYSEAL DYSPLASIA, AND VERTEBRAL SEGMENTATION DEFECTS

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.