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- Title
Prader-Willi syndrome: an update and review for the primary pediatrician.
- Authors
Chen, Christina; Visootsak, Jeannie; Dills, Shelley; Graham, John M, Jr
- Abstract
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.
- Publication
Clinical pediatrics, 2007, Vol 46, Issue 7, p580
- ISSN
0009-9228
- Publication type
Journal Article
- DOI
10.1177/0009922807299314