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Osseous fragility in Marshall–Smith syndrome
Author(s) -
Diab Mohammad,
Raff Michael,
Gunther Daniel F.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10173
Subject(s) - failure to thrive , hypotonia , craniofacial , fragility , medicine , psychomotor learning , pediatrics , bone age , short stature , psychomotor retardation , endocrinology , pathology , chemistry , cognition , psychiatry , alternative medicine
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.