A case report of recurrent Meckel Gruber syndrome.

Lee, Min A; Hyun, Suk Whan; Hwang, Soon Ho; Shin, Kwan Seop; Yang, Jung Bo; Lee, Jin Goo; Son, Sung Kyong; Rhee, Yun Ee

Case Report

Korean Journal of Obstetrics & Gynecology 2006;49(10):2194-2198.
Published online October 1, 2006.

A case report of recurrent Meckel Gruber syndrome.

Min A Lee, Suk Whan Hyun, Soon Ho Hwang, Kwan Seop Shin, Jung Bo Yang, Jin Goo Lee, Sung Kyong Son, Yun Ee Rhee

Department of Obstetrics and Gynecology, College of Medicine, Chungnam National University, Daejeon, Korea. rheyun@cnu.ac.kr

Abstract

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.

Key Words: Meckel Gruber syndrome, Prenatal diagnosis, Ultrasonography