PRADER-WILLI-SYNDROME, A DIFFICULT DIAGNO SIS IN THE NEWBORN

The diagnosis Prader-Willi-Syndrome (PWS) in the neonate is difficult because features like neonatal hypotonia and feeding problems are easi ly misdiagnosed as a consequence of peripartal asphyxia. Craniofacial abnormalities like narrow bifrontal diameter, almond shaped palpebral fissures and openend down-turned mouth are underdiagnosed especially i f respiratory treatment is necessary. Hypogonadism in girls and in mil der expression in boys (for example cryptorchism) are common and unspe cific signs at that age. Typical features like obesity and hyperphagia , small hands and feet and small stature are not expressed until the s econd year. The clinical course of PWS in the neonate is demonstrated in two cases. Diagnostic criteria and therapeutic intervention are dis cussed. Hydrops fetalis as a seldom feature in PWS has to be taken int o consideration.