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Prader-Willi Syndrome: An Update and Review for the Primary Pediatrician
Christina Chen BS,
Jeannie Visootsak MD*,
Shelley Dills MS,
John M. Graham Jr., MD, ScD
* To whom correspondence should be addressed. E-mail: Jvisootsak{at}genetics.emory.edu.
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Abstract |
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Prader-Willi syndrome, the first known human genomic imprinting disorder, is one of the most common micro-deletion syndromes. Prader-Willi syndrome is caused by the absence of certain paternally inherited genes on the long arm of chromosome 15, resulting in a complete absence of the active copy of the genetic information in this region. It is most commonly known for its food-related characteristics of hyperphagia, food-seeking behavior, and consequent obesity. Primary care physicians play an important role in the care of children with Prader-Willi syndrome, from recognizing the presenting signs and symptoms at its various stages to understanding their unique medical, developmental, behavioral, and dietary issues. They can also serve as a valuable source of support and advocacy for the family. This article reviews the current state of knowledge about Prader-Willi syndrome and discusses up-to-date understanding of the management of this condition.
First published on May 23, 2007, doi:10.1177/0009922807299314
Clinical Pediatrics 2007;46:580.
A more recent version of this article appeared on September 1, 2007

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