Diab Mohammad, Raff Michael, Gunther Daniel F
Department of Orthopaedics, Children's Hospital and Regional Medical Center, N.E., Seattle, Washington 98105, USA.
Am J Med Genet A. 2003 Jun 1;119A(2):218-22. doi: 10.1002/ajmg.a.10173.
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.
马歇尔-史密斯综合征的特征为骨成熟加速、颅面畸形、生长发育迟缓、精神运动发育迟缓、肌张力减退、肺功能障碍以及预期寿命有限。我们描述了一名7岁女孩，她除了符合马歇尔-史密斯综合征的这些标准外，还患有多处骨折和骨骼异常。本报告的目的是提请注意马歇尔-史密斯综合征是一种以骨质脆弱为特征的骨骼发育异常疾病。
