A case report of recurrent Meckel Gruber syndrome / 대한산부인과학회지

Meckel Gruber syndrome consisting of an occipital encephalocele, polycystic kidney disease and polydactyly is a rare autosomal recessive disorder with a recurrence risk of 25%. Targeted ultrasonography in late embryonic or early fetal stages of pregnancy has great importance in diagnosis and management of affected pregnancy in high risk groups due to incomplete genetic mapping of meckel syndrome gene (MKS). We present a case of prenatal diagnosis at 14 weeks' gestational age of Meckel Gruber syndrome in a woman, who experienced same disorder in her previous pregnancy.