A Case of Meckel-Gruber Syndrome Diagnosed by  Ultrasonography at 18 Weeks` Gestation.

Kim, Jong Hwa; Won, Hyung Jae; Cha, Dong Hyun; Lee, Kook

Obstet Gynecol Sci > Volume 44(5); 2001 > Article

Case Report

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.

Keywords: Meckel-Gruber syndrome; Prenatal diagnosis; Ultrasonography