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, tet...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Medical Network
2014-12-01
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| Series: | Gynecology Obstetrics & Reproductive Medicine |
| Subjects: | |
| Online Access: | https://gorm.com.tr/index.php/GORM/article/view/169 |
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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.
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| ISSN: | 1300-4751 2602-4918 |