필자들은 최근 임신35주 4일에 복부초음파로 산전진찰하고 임신 종결후 확인된 메켈-그루버증후군 1례를 경험하였기에 간단한 문헌고찰과 함께 보고하는바이다.

The main features of the meckel syndrome are postaxial polydactyly, large polycystic kidneys and occipital encephalocele, a variety of other malformations have also been described, including craniofacial anomalies, heart defects hepatomegaly and genital anomalies The condition is a unique subgroup neural tube defects with autosomal recessive mode of inheritance A case of severe congenital anomaly due to Meckel-Grber syndrome (polydactyly, polycystic kidney, cleft lip and palate, hypogonadism) diagnosed by ultrasonogram in the antenatal period is presented with a bredf review of the literature.