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This version was published on September 1, 2007
Clinical Pediatrics, Vol. 46, No. 7, 580-591 (2007)
DOI: 10.1177/0009922807299314

Prader-Willi Syndrome: An Update and Review for the Primary Pediatrician

Christina Chen, BS

Emory University School of Medicine, Emory Univ. School of Medicine Atlanta, GO

Jeannie Visootsak, MD

Department of Human Genetics, Emory Univ School of Medicine, Atlanta, Georgia, Jvisootsak@genetics .emory.edu

Shelley Dills, MS

Department of Human Genetics, Emory Univ School of Medicine, Atlanta, Georgia

John M. Graham, JR, MD, ScD

Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Department of Pediatrics, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California

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.

Key Words: Prader-Willi syndrome • obesity • growth hormone • hypotonia • developmental delay.


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