| Autor: |
Sümeyra Nergiz, Selda Demircan Sezer, Sündüz Özlem Altınkaya, Mert Küçük, Hasan Yüksel |
| Jazyk: |
angličtina |
| Rok vydání: |
2016 |
| Předmět: |
|
| Zdroj: |
Gynecology Obstetrics & Reproductive Medicine, Vol 20, Iss 3 (2016) |
| Druh dokumentu: |
article |
| ISSN: |
1300-4751 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
