hrp0086p2-p883 | Syndromes: Mechanisms and Management P2 | ESPE2016

Prader-Willi Syndrome – Different Patients, Different Attitude

Bursuc Anamaria , Belceanu Alina , Armasu Ioana , Constantinescu Georgiana , Leustean Letitia , Rusu Cristina , Boisteanu Daniela , Vulpoi Carmen

Introduction: Prader-Willi Syndrome (PWS) is a multisystemic genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2–q13, characterized by dysmorphic features, hypotonia, mental retardation, behavioral abnormalities, hyperphagia with progressive obesity and endocrine dysfunctions as hypogonadism and GH deficiency (GHD).Cases report: We present 3 cases: 2 females and 1 male with specific clinical features...