Meckel Gruber Syndrome diagnosed in two consecutive pregnancies

Meckel Gruber syndrome is a lethal, autosomal recessive, multisystemic disorder that is associated with a mutation affecting ciliogenesis. In this report, we present two consecutive pregnancies of a woman complicated with MKS. In the first pregnancy with MKS, the amniotic fluid index was under 1 cm with bilateral polycystic fetal kidneys. Postabortion macroscopic examination of the first fetus revealed multiple congenital anomalies including occipital encephalocele, axial polydactyly and pes equinovarus. Ultrasound examination during the second gestation revealed a singleton pregnancy complicated by MKS. There were multiple congenital anomalies including an occipital encephalocele, polycystic and horseshoe shaped kidneys, axial polydactyly, cleft lip and palate.