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Korean Journal of Obstetrics & Gynecology 2001;44(5):1004-1007.
Published online May 1, 2001.
A Case of Meckel-Gruber Syndrome Diagnosed by Ultrasonography at 18 Weeks` Gestation.
Jong Hwa Kim, Hyung Jae Won, Dong Hyun Cha, Kook Lee
Department of Obstetrics and Gynecology, College of Medicine, Yonsei University, Seoul, Korea.
Abstract
Meckel-Gruber syndrome is a congenital disorder characterized by occipital encephalocele, bilateral multicystic kidneys with fibrotic changes of the liver and postaxial polydactyly. Other anomalies are frequently associated. This syndrome is a rare autosomal recessive disorder often resulting in neonatal death within a few hours of life and has the high recurrence(one in four) in future pregnancies. We present the case of Meckel-Gruber syndrome diagnosed by ultrasonography at 18 weeks` gestation with a brief literature review.
Key Words: Meckel-Gruber syndrome, Prenatal diagnosis, Ultrasonography


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