A Rare Fetal Anomaly, Meckel-Gruber Syndrome: A Case Report

Öz

Meckel-Gruber syndrome is a rare, lethal autosomal recessive disorder, which is mainly characterized by cystic renal disease, encephalocele, and polydactyly. For diagnosis, two out of these three findings required to be present. This syndrome seen rarely but have high risk of reccurence. The signs of the syndrome can be detected during the routine ultrasonographic examination between 11-14th weeks of the pregnancy. Early diagnose should be made by examining the fetus ultrasonographically for the signs of syndrome. Because of 25% chance of recurrence, these patients should be closely followed up in future pregnancies. In this article, we aimed to present a case with intrauterineMGS.

Anahtar Kelimeler

• Meckel-Gruber syndrome,encephalocele,multicystic dysplastic kidney,polydactyly

Nadir Görülen Bir Fetal Anomali, Meckel-Gruber Sendromu: Olgu Sunumu

Öz

Meckel-Gruber sendromu nadir görülen, otozomal resesif geçiş gösteren ve ana bulguları renal kistik displazi, ensefalosel ve polidaktili olan ölümcül seyreden kalıtsal bir hastalıktır. Bunlardan üçünden en az ikisinin olması tanıyı koydurur. Nadir görülmekle birlikte tekrarlama riski yüksektir. Gebeliğin 11-14. haftalarında yapılan rutin ultrasonografik tarama ile Meckel-Gruber sendromu tanısı konulabilir. Sendroma yönelik bulgular aranarak tanı mümkün olduğunca erken konmalıdır. %25 tekrarlama riski nedeniyle bu hastalar sonraki gebeliklerinde yakın takip edilmelidirler. Bu yazıda intrauterin Mecgel Gruber Sendromu saptanan bir olgu sunulmasını amaçladık.

Anahtar Kelimeler

• Meckel-Gruber sendromu,ensefalosel,multikistik displastik böbrek,polidaktili

Kaynakça

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