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Osseous fragility in Marshall-Smith syndrome
Mohammad Diab1, Michael Raff, Daniel F Gunther
1Department of Orthopaedics, Children's Hospital and Regional Medical Center, N.E., Seattle, Washington 98105, USA. ajmg@hsc.utah.edu
American Journal of Medical Genetics. Part A
|May 16, 2003
Summary
Marshall-Smith syndrome is a rare genetic disorder with significant health issues. This case highlights skeletal fragility and multiple fractures as key features of this condition.
Area of Science:
- Genetics
- Pediatrics
- Skeletal Dysplasias
Background:
- Marshall-Smith syndrome is a rare genetic disorder.
- It presents with accelerated bone maturation, craniofacial anomalies, failure to thrive, psychomotor delay, hypotonia, pulmonary dysfunction, and reduced life expectancy.
Purpose of the Study:
- To report a case of Marshall-Smith syndrome in a 7-year-old girl.
- To emphasize osseous fragility as a characteristic feature of Marshall-Smith syndrome.
Main Methods:
- Clinical case description.
- Review of diagnostic criteria for Marshall-Smith syndrome.
Main Results:
- The patient met the diagnostic criteria for Marshall-Smith syndrome.
- The patient exhibited multiple fractures and skeletal anomalies, indicating significant osseous fragility.
Conclusions:
- Marshall-Smith syndrome should be recognized as a skeletal dysplasia associated with bone fragility.
- Further research into the skeletal manifestations of Marshall-Smith syndrome is warranted.