Abstract

Introduction: Because of the pulmonary hypoplasia, Meckel-Gruber syndrome is an uncommon autosomal recessive condition with a 100% fatality rate. It results from mutations in genes that code for proteins that are essential to the primary cilium's structure and function. Global incidence varies between 1 in 1,300 to 1 in 140,000 live births. Case report: At 22 weeks of pregnancy, a 26-year-old woman with a history of third-degree consanguineous marriage chose to end the pregnancy in accordance with the PCPNDT (Pre-Conception and Pre-Natal Diagnostic Techniques) Act after ultrasound revealed a single fetus with occipital encephalocele, bilateral enlarged kidneys with cysts, and decreased amniotic fluid. The fetus was delivered, the pregnancy was ended, and it was sent for autopsy. Examining the female fetus revealed postaxial polydactyly in all four limbs—hexapolydactyly—bilateral enlarged kidneys with cysts filling the entire abdomen, and occipital encephalocele. Potter's facies, clubfoot, dextrocardia with pulmonary hypoplasia, long bone bowing, and a short, webbed neck were also present in the fetus. Conclusion: Polydactyly, hepatic fibrosis, renal cystic dysplasia, CNS malformations, cysts and duct proliferation, and pulmonary hypoplasia from oligohydramnios are all features of Meckel-Gruber syndrome, a rare autosomal recessive lethal ciliopathic genetic anomaly. To rule out trisomy 13, which mimics Meckel-Gruber syndrome, chromosome analysis is necessary. Meckel-Gruber syndrome has a 25% recurrence rate, while trisomy 13 has a 1% risk. Information about the prognosis of the fetus after diagnosis, carrier testing, future reproductive outcomes, and the occurrence/recurrence risk and the outcome through genetic counselling is very essential.