Meckel-Gruber syndrome (MGS) is a lethal autosomal recessive condition which is rarely reported. Polycystic kidneys, polydactyly, occipital encephalocele are the diagnostic triad for MGS. 24 year old G2P1L1 having a consanguineous marriage at 20 weeks of gestation on detailed level II anomaly scan showed bilateral enlarged polycystic kidneys with increased echogenicity, absent urinary bladder, posterior occipital encephalocele, bowing of femur, absent liquor. Features were suggestive of Meckel-Gruber syndrome and baby delivered vaginally. Gross examination and autopsy confirmed the diagnosis. Early diagnosis is important with ultrasound as early as 11- 14 weeks, chorionic villous sampling at 14 weeks and targeted scan in early second trimester in every pregnancy to detect these anomalies.

Authors: Nidhi Gupta, Seema Singhal

Key Words: Meckel Gruber Syndrome, occipital encephalocele, genetic counselling