1Assistant Professor,
2Assistant Professor,
*Corresponding Address: Vardendra Kulkarni, Assistant Professor, Department of Pathology, J J M Medical College, Davangere - 577004 (Karnataka) Mob: 9731501466, e-mail:vardendrak@rediffmail.com
Meckel-Gruber syndrome (MKS) is a rare congenital polymalformative syndrome with an autosomal recessive mode of inheritance. It is characterized by a classic triad of renal cystic disease, CNS malformation and polydactyly. The outcome of the syndrome is usually lethal. Prenatal diagnosis of the syndrome can be made by ultrasound examination between 11–14 weeks of gestation. Termination of the pregnancy can be offered if the diagnosis is made before viability. The parents have to be counseled regarding the chances of recurrence in the subsequent pregnancy. We report a case of a stillborn male fetus with features compatible with Meckel-Gruber syndrome.
Meckel-Gruber Syndrome, Encephalocele, Cystic Renal Dysplasia