Prader-Willi Syndrome

Abstract

IN 1956 Prader et al1first reported nine cases of a new syndrome. The symptom complex evolves to its full expression over a number of years. The prenatal course is usually uneventful, except for decreased fetal activity. Infants are born at term with a low birth weight. Shortly after birth, extreme weakness with generalized muscular hypotonia, poor suck, and weak cry become evident. The period is marked by difficult feeding and episodes of hypoxia. After several weeks to months of failure to thrive, there is gradual improvement in strength accompanied by more vigorous feeding and accelerated weight gain. By 2 years of age obesity has supervened, while delay in psychomotor development is apparent. Subsequently, there develops extraordinary obesity with hyperphagia, and, in addition, short stature, hypoplastic genital organs, and delayed puberty. By this time the patients present a striking clinical picture, with extreme adiposity distributed predominantly over the lower