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Jennifer L. Miller, Approach to the Child with Prader-Willi Syndrome, The Journal of Clinical Endocrinology & Metabolism, Volume 97, Issue 11, 1 November 2012, Pages 3837–3844, https://doi.org/10.1210/jc.2012-2543
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Prader-Willi syndrome (PWS) is a complex genetic disorder that is caused by the absence of normally active paternally expressed genes from the chromosome 15q11-q13 region (1). PWS has a prevalence of 1/10,000 to 1/30,000 individuals and is characterized by poor feeding in infancy often associated with failure to thrive, followed by obesity beginning around age 2 (1, 2). These individuals also have hyperphagia, hypotonia, developmental and cognitive delay, behavioral problems, and neuroendocrine abnormalities. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common, related to GH insufficiency. Characteristic facial features, strabismus, and scoliosis are often present, and there is an increased incidence of sleep disturbance and type II diabetes mellitus, the latter particularly in those who become obese.