We experienced a typical case of Beckwith-Wiedemann syndrome. Prenatal ultrasonography demonstrated a bulging of fetal umbilicus and hydramnion at 23 weeks gestation. The neonate was delivered by cesarean section for rupture of amnionic bag to a gravida II, para I, 26-year-old mother at 34 weeks of gestation. Physical examination of the newborn revealed a birth weight of 2,630g and an estimated gestational age of 37 weeks. The tongue was prominent and a few indentations were present in the bilateral ear lobes. A nevus flammeus on forehead extended to the nose and eyelids. Hernia into the umbilical cord, 4X3.5X11.5cm, and clitoromegaly were present. There was no asymmetry of the body. Hernia into the umbilical cord was repaired on the first day. Two hours after the birth, blood glucose level was 19 mg/dl. Hypoglycemia was treated with an intravenous glucose infusion. Hypoglycemic state lasted for 6 days after the birth. Chromosomal study was normal. At 21-day-old, ultrasonography demonstrated bilateral mild renal hypertrophy. But renal function was normal. She is now l-year-3-month-old, and appropriate in growth for her age. Large tongue and ear lobe indentations are present. A nevus flammeus becomes more light in color. There are 70 case reports of Beckwith-Wiedemann syndrome in Japan. Our case had exomphalos, macroglossia, ear lobe indentations, nevus flammeus, hypoglycemia, and viscer omegaly. Such a typical case is very rare. Beckwith-Wiedemann syndrome needs to be followed up by paying careful attension to respiratory failure by macroglossia, hypoglycemia, and malignancy.
