Journal
CLINICAL PEDIATRICS
Volume 46, Issue 7, Pages 580-591Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0009922807299314
Keywords
Prader-Willi syndrome; obesity; growth hormone; hypotonia; developmental delay
Categories
Funding
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT [P01HD022657] Funding Source: NIH RePORTER
- NATIONAL CENTER FOR RESEARCH RESOURCES [K12RR017643] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [T32GM008243] Funding Source: NIH RePORTER
- NCRR NIH HHS [K12 RR017643] Funding Source: Medline
- NICHD NIH HHS [HD22657] Funding Source: Medline
- NIGMS NIH HHS [GM08243] Funding Source: Medline
- NIMHD NIH HHS [L32MD000625-01] Funding Source: Medline
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Prader-Willi syndrome, the first known human genomic imprinting disorder, is one of the most common microdeletion 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.
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