Osseous fragility in Marshall–Smith syndrome
Version of Record online: 11 MAR 2003
Copyright © 2003 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 119A, Issue 2, pages 218–222, 1 June 2003
How to Cite
Diab, M., Raff, M. and Gunther, D. F. (2003), Osseous fragility in Marshall–Smith syndrome. Am. J. Med. Genet., 119A: 218–222. doi: 10.1002/ajmg.a.10173
- Issue online: 8 MAY 2003
- Version of Record online: 11 MAR 2003
- Manuscript Accepted: 14 OCT 2002
- Manuscript Received: 3 JUN 2002
- bone fracture;
- skeletal dysplasia
Marshall–Smith syndrome is characterized by accelerated osseous maturation, craniofacial anomalies, failure to thrive, psychomotor delay, hypotonia, pulmonary dysfunction, and limited life expectancy. We describe a 7-year-old girl who, in addition to meeting these criteria for Marshall–Smith syndrome, had multiple fractures and skeletal anomalies. The purpose of this report is to draw attention to Marshall–Smith syndrome as one of the skeletal dysplasias characterized by osseous fragility. © 2003 Wiley-Liss, Inc.