A floppy term newborn infant: think also about Prader-Willi syndrome

Key words: Floppy infant, Feeding problems, Dysmorphism, Prader-Willi syndrome

The paper describes the case of a term newborn infant, born by elective caesarean section with no prenatal and perinatal risk factors. He presented with an unexpected cardiorespiratory depression at birth, severe hypotonia, feeding problems and peculiar dysmorphism: micrognathia with chubby cheeks, small hands and right cryptorchidism. In the suspect of Prader-Willi syndrome, DNA methylation test confirmed the diagnostic hypothesis. The simultaneous presence of neonatal hypotonia, poor suck and peculiar dysmorphism should suggest Prader-Willi syndrome and thus the performance of the DNA methylation test to confirm the diagnosis for a timely and adequate therapeutic work-up.