hrp0086rfc6.5 | Syndromes: Mechanisms and Management | ESPE2016
Salehi Parisa
, Chen Maida
, Beck Anita
, McAfee Amber
, Kim Soo-Jeong
, Herzig Lisa
, Leavitt Anne
Background: Prader-Willi Syndrome (PWS), due to loss of expression from genes within the PWS imprinted region at chromosome 15q11.2-13, is characterized by hypotonia and feeding intolerance in infancy with later development of hyperphagia and obesity. Growth hormone improves tone, body composition, and height and can be started in infancy. Morbidity and mortality in PWS include those secondary to hyperphagia and respiratory illness as well as a 17% reported incidence of sudden...