Osseous fragility in Marshall-Smith syndrome.
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.
Diab
Mohammad
M
Department of Orthopaedics, Children's Hospital and Regional Medical Center, N.E., Seattle, Washington 98105, USA. ajmg@hsc.utah.edu
Raff
Michael
M
Gunther
Daniel F
DF
D000365:Age Determination by Skeleton; D000970:Antineoplastic Agents / Q000494:pharmacology; D001848:Bone Diseases, Developmental / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D001842:Bone and Bones / Q000293:injuries / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D004164:Diphosphonates / Q000494:pharmacology; D005260:Female; D050723:Fractures, Bone / Q000503:physiopathology; D006801:Humans; D007223:Infant; D000077268:Pamidronate
D000970:Antineoplastic Agents; D004164:Diphosphonates; D000077268:Pamidronate