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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| Format: | Article |
| Language: | English |
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Medical Network
2014-12-01
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| Series: | Gynecology Obstetrics & Reproductive Medicine |
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| Online Access: | https://gorm.com.tr/index.php/GORM/article/view/169 |
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| author | Sümeyra Nergiz Selda Demircan Sezer Sündüz Özlem Altınkaya Mert Küçük Hasan Yüksel |
| author_facet | Sümeyra Nergiz Selda Demircan Sezer Sündüz Özlem Altınkaya Mert Küçük Hasan Yüksel |
| author_sort | Sümeyra Nergiz |
| collection | DOAJ |
| description |
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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| format | Article |
| id | doaj-art-6ba76248e95044869177d3b2c0b03db8 |
| institution | Kabale University |
| issn | 1300-4751 2602-4918 |
| language | English |
| publishDate | 2014-12-01 |
| publisher | Medical Network |
| record_format | Article |
| series | Gynecology Obstetrics & Reproductive Medicine |
| spelling | doaj-art-6ba76248e95044869177d3b2c0b03db82025-02-11T21:24:18ZengMedical NetworkGynecology Obstetrics & Reproductive Medicine1300-47512602-49182014-12-01203108Meckel Gruber Syndrome- A Case Report And Review of LiteratureSümeyra Nergiz0Selda Demircan Sezer1Sündüz Özlem Altınkaya2Mert Küçük3Hasan Yüksel4Department of Gynecology and Obstetrics Adnan Menderes University School of Medicine, AydınDepartment of Gynecology and Obstetrics Adnan Menderes University School of Medicine, AydınDepartment of Gynecology and Obstetrics Adnan Menderes University School of Medicine, AydınDepartment of Gynecology and Obstetrics Adnan Menderes University School of Medicine, AydınDepartment of Gynecology and Obstetrics Adnan Menderes University School of Medicine, Aydın 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. https://gorm.com.tr/index.php/GORM/article/view/169Meckel gruber syndromeUltrasonographyPrenatal diagnosis |
| spellingShingle | Sümeyra Nergiz Selda Demircan Sezer Sündüz Özlem Altınkaya Mert Küçük Hasan Yüksel Meckel Gruber Syndrome- A Case Report And Review of Literature Gynecology Obstetrics & Reproductive Medicine Meckel gruber syndrome Ultrasonography Prenatal diagnosis |
| title | Meckel Gruber Syndrome- A Case Report And Review of Literature |
| title_full | Meckel Gruber Syndrome- A Case Report And Review of Literature |
| title_fullStr | Meckel Gruber Syndrome- A Case Report And Review of Literature |
| title_full_unstemmed | Meckel Gruber Syndrome- A Case Report And Review of Literature |
| title_short | Meckel Gruber Syndrome- A Case Report And Review of Literature |
| title_sort | meckel gruber syndrome a case report and review of literature |
| topic | Meckel gruber syndrome Ultrasonography Prenatal diagnosis |
| url | https://gorm.com.tr/index.php/GORM/article/view/169 |
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