Analysis of skeletal dysplasias in the Utah population.

@article{Stevenson2012AnalysisOS,
  title={Analysis of skeletal dysplasias in the Utah population.},
  author={David A. Stevenson and John C Carey and Janice L. B. Byrne and Sivithee Srisukhumbowornchai and Marcia L Feldkamp},
  journal={American journal of medical genetics. Part A},
  year={2012},
  volume={158A 5},
  pages={
          1046-54
        }
}
The Utah Birth Defect Network (UBDN) collects population-based data for Utah on births from all resident women. The prevalence of skeletal dysplasias and epidemiologic characteristics/outcomes were evaluated. Cases categorized as a skeletal dysplasia from all live births, stillbirths, and pregnancy terminations (TAB) between 1999 and 2008 were reviewed by three clinical geneticists. After case review, 153 were included for analysis (88% live births, 3% stillborn, 9% TAB), and categorized by… CONTINUE READING
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