[HTML][HTML] Prader-willi syndrome

SB Cassidy, S Schwartz, JL Miller, DJ Driscoll - Genetics in medicine, 2012 - Elsevier
Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and
failure to thrive; hypogonadism causing genital hypoplasia and pubertal insufficiency;
characteristic facial features; early-childhood onset obesity and hyperphagia; developmental
delay/mild intellectual disability; short stature; and a distinctive behavioral phenotype. Sleep
abnormalities and scoliosis are common. Growth hormone insufficiency is frequent, and
replacement therapy provides improvement in growth, body composition, and physical …