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 Görüntüleme 5
 İndirme 1
Meckel-Gruber Sendromu: Dokuz olgu sunumu ve literatürün incelenmesi
2013
Yazar :  
Özet :

Objective: The Meckel-Gruber syndrome is an autosomal recessive lethal syndrome which characterized by systemic malformations. Nine patients observed at six months period in our region that consanguineous marriage are common. We aim to present this rare syndrome with current literature knowledge. Methods: We presented that prenatally diagnosed with Meckel-Gruber syndrome of nine fetus in Dicle University Faculty of Medicine, Obstetrics and Gynecology Department between January 2013 and June 2013. Results: The rate of Meckel Gruber Syndrome was found as 1/3500 in our region in one year. Conclusion: Our result showed that consanguineous marriages might be an important factor leading to increase rate of Meckel-Gruber syndrome. Families having these patients should be offered genetic screening for possible recurrences.

Anahtar Kelimeler :

Meckel-Gruber Syndrome: The Presentation of Nine Facts and the Study of Literature
2013
Yazar :  
Özet :

Objective: The Meckel-Gruber syndrome is an autosomal recessive lethal syndrome which is characterized by systemic malformations. Nine patients observed at six months period in our region that consanguineous marriage are common. We aim to present this rare syndrome with current literature knowledge. Methods: We presented that prenatally diagnosed with Meckel-Gruber syndrome of nine fetus in Dicle University Faculty of Medicine, Obstetrics and Gynecology Department between January 2013 and June 2013. Results: The rate of Mackell Gruber Syndrome was found as 1/3500 in our region in a year. Conclusion: Our result showed that consanguineous marriages might be an important factor leading to increased rate of Meckel-Gruber syndrome. Families having these patients should be offered genetic screening for possible recurrences.

Anahtar Kelimeler :