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References (7)
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Les Maladies Osseuses de l'Enfant -
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- Publisher
- Wiley
- Copyright
- Copyright © 1996 Wiley Subscription Services, Inc., A Wiley Company
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- DOI
- 10.1002/(SICI)1096-8628(19960111)61:2<164::AID-AJMG12>3.0.CO;2-S
- pmid
- 8669445
- Publisher site
- See Article on Publisher Site
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 spondyloepi‐metaphyseal dysplasias. © 1996 Wiley‐Liss, Inc.
Journal
American Journal of Medical Genetics Part A – Wiley
Published: Nov 11, 1996
Keywords: ; ; ; ;