Meckel Gruber Syndrome- A Case Report And Review of Literature

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, tetr...

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Published inGynecology, obstetrics & reproductive medicine : GORM Vol. 20; no. 3
Main Authors Sümeyra Nergiz, Selda Demircan Sezer, Sündüz Özlem Altınkaya, Mert Küçük, Hasan Yüksel
Format Journal Article
LanguageEnglish
Published Medical Network 01.05.2016
Subjects
Meckel gruber syndrome, Ultrasonography, Prenatal diagnosis
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Summary: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.
ISSN:1300-4751