Prenatal imaging of the Meckel-Gruber syndrome

A 32 years old woman, gravida 2 para 1, presented at 27+5 weeks' gestation with a large fetal head for the gestational age, an occipital encephalocele and ventriculomegaly. Both fetal kidneys were large, echogenic and multicystic, but oligohydramnion was not observed. Post-axial polydactyly of the fetal feet was demonstrated. The Meckel-Gruber syndrome was diagnosed, but termination of pregnancy was declined. Three weeks later, the patient spontaneously delivered an 1890 grams live-born female. The newborn died 2 days later in the neonate intensive care unit.