Title: Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects
Authors: Fryns, Jean-Pierre ×
Lorenzetti, M E
Maroteaux, P
Van den Berghe, Herman #
Issue Date: Jan-1996
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics vol:61 issue:2 pages:164-7
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.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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