ABSTRACT

Meckel-Gruber syndrome is a rare, lethal autosomal recessive disorder, which is mainly characterized by cystic renal disease, central nervous system malformation, polydactyly and hepatic abnormalities. It caries a high risk of recurrence, and antenatal diagnosis is possible in the early gestational weeks. Here we present a female with Meckel Gruber syndrome and draw attention to the importance of prenatal diagnosis of those cases. A 38-week-gestation female neonate who was born by vaginal delivery demonstrated occipital encephalocele, bilateral anophthalmia, cleft palate, lobulated tongue, micrognathia, bilateral dysplastic kidneys, polydactyly, and syndactyly. A detailed physical and laboratory examination is suggested in those cases having encephalocele.