Meckel Gruber Syndrome- A Case Report And Review of Literature

Sümeyra Nergiz; Selda Demircan Sezer; Sündüz Özlem Altınkaya; Mert Küçük; Hasan Yüksel

Gynecology Obstetrics & Reproductive Medicine (May 2016)

Meckel Gruber Syndrome- A Case Report And Review of Literature

Sümeyra Nergiz,
Selda Demircan Sezer,
Sündüz Özlem Altınkaya,
Mert Küçük,
Hasan Yüksel

Affiliations

Sümeyra Nergiz: Department of Gynecology and Obstetrics Adnan Menderes University School of Medicine, Aydın
Selda Demircan Sezer: Department of Gynecology and Obstetrics Adnan Menderes University School of Medicine, Aydın
Sündüz Özlem Altınkaya: Department of Gynecology and Obstetrics Adnan Menderes University School of Medicine, Aydın
Mert Küçük: Department of Gynecology and Obstetrics Adnan Menderes University School of Medicine, Aydın
Hasan Yüksel: Department of Gynecology and Obstetrics Adnan Menderes University School of Medicine, Aydın

Journal volume & issue: Vol. 20, no. 3

Abstract

Read online

Meckel-Gruber syndrome (MGS) is a lethal autosomal recessive disorder. MGS is thought to be caused by ciliary dysfunction. The worldwide incidence of MGS varies from 1 in 13 250 to 1 in 140.000 live births. MGS is characterized by three main symptoms: central nervous system (CNS) malformations, tetramelic postaxial polydactyly and cystic renal dysplasia with associated fibrocystic changes of the liver, pancreas and epididymis. Here a case of MG syndrome, diagnosed in early weeks of gestation was reported.

Meckel gruber syndrome, Ultrasonography, Prenatal diagnosis

Published in Gynecology Obstetrics & Reproductive Medicine

ISSN: 1300-4751 (Print); 2602-4918 (Online)
Publisher: Medical Network
Country of publisher: Türkiye
LCC subjects: Medicine: Gynecology and obstetrics
Website: https://gorm.com.tr/index.php/GORM/index

About the journal

Abstract

Keywords