title: Prader-Willi syndrome: an update and review for the primary pediatrician.
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.
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
authors.forename: Christina
authors.initials: C
authors.lastname: Chen
authors.forename: Jeannie
authors.initials: J
authors.lastname: Visootsak
authors.forename: Shelley
authors.initials: S
authors.lastname: Dills
authors.forename: John M
authors.initials: JM
authors.lastname: Graham
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D011218:Prader-Willi Syndrome / Q000628:therapy