| Literature DB >> 12749068 |
Mohammad Diab1, Michael Raff, Daniel F Gunther.
Abstract
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. Copyright 2003 Wiley-Liss, Inc.Entities:
Mesh:
Substances:
Year: 2003 PMID: 12749068 DOI: 10.1002/ajmg.a.10173
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802