AIM: Meckel-Gruber Syndrome(MGS) is a rare, lethal, autosomal recessive disorder. The triad of occipital encephalocele, cystic renal dysplasia and postaxial polydactyly characterizes this syndrome. We aimed to present two cases by reason of lethal, rare condition that were seen in our clinic in the light of the literature. Cases: 1) 38 years old, multigravid (G6 P3) patient had one living child, a history of first degree of relationship was sent to our clinic due to oligohydramnios at 21st gestational week. Sonographically posterior encephalocele, bilaterally polycystic kidneys, polycystic, hyperechogenic intestines and anhydramnios were observed. After the termination of pregnancy genetic investigation was performed. In autopsy, occipital encephalocele, polydactyly at all four extremities, bilaterally cystic kidneys, fibrosis at portal areas and ductal proliferation of the bile ducts were shown. Based on these findings, the diagnosis of MGS was made. 2) 27 years old, multigravid (G5 P4) patient with a history of first degree of relationship was sent to our clinic for ultrasonographic evaluation. Sonographically 19 weeks gestation compatible with last menstrual period, bilaterally enlarged kydneys, polydactyly at all four extremities, bilaterally intracranial ventriculomegaly, encephalocele and anhydramnios were seen. In autopsy, occipital encephalocele, polydactyly, bilaterally cystic kydneys,hydrocephaly, cervical myelocele, atrial septal defect, ductal plate malformation of the liver, hypoplasic adrenal gland, pes equinovarus and scoliosis were determined and Meckel-Gruber was diagnosed according to these findings. RESULT: Early diagnose should be made by examining the fetus ultrasonographically for the signs of syndrome. Because of 25% chance of recurrence, these patients should be closely followed up in future pregnancies.
Keywords: fetal anomaly, Meckel-Gruber syndrome