Prader-Willi syndrome

摘要: Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and failure to thrive; hypogonadism causing genital hypoplasia pubertal insufficiency; characteristic facial features; early-childhood onset obesity hyperphagia; developmental delay/mild intellectual disability; short stature; a distinctive behavioral phenotype. Sleep abnormalities scoliosis are common. Growth hormone insufficiency frequent, replacement therapy provides improvement in growth, body composition, physical attributes. Management otherwise largely supportive. Consensus clinical diagnostic criteria exist, but diagnosis should be confirmed through genetic testing. due absence of paternally expressed imprinted genes at 15q11.2-q13 paternal deletion this region (65–75% individuals), maternal uniparental disomy 15 (20–30%), or an imprinting defect (1–3%). Parent-specific DNA methylation analysis will detect >99% individuals. However, additional studies necessary identify the molecular class. There multiple region, loss which contribute complete phenotype syndrome. small nucleolar organizing RNA gene, SNORD116, seems reproduce many features. Sibling recurrence risk typically <1%, higher risks may pertain certain cases. Prenatal available. Genet Med 2012:14(1):10–26.