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Am J Med Genet A. 2003 Jun 1;119A(2):218-22.

Osseous fragility in Marshall-Smith syndrome.

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  • 1Department of Orthopaedics, Children's Hospital and Regional Medical Center, N.E., Seattle, Washington 98105, USA.


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.

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