Case Report

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


  • Aydın Erdemir
  • Zelal Kahramaner
  • Mehmet Tekin
  • Sümeyye Ercan
  • Bilal Arık
  • Özgür Çevik

Received Date: 06.10.2013 Accepted Date: 04.11.2013 J Pediatr Res 2014;1(3):164-166

Meckel-Gruber syndrome is a rare, lethal autosomal recessive disorder, which is mainly characterized by cystic renal disease, central nervous system malformation, polydactyly and hepatic abnormalities. It caries a high risk of recurrence, and antenatal diagnosis is possible in the early gestational weeks. Here we present a female with Meckel Gruber syndrome and draw attention to the importance of prenatal diagnosis of those cases. A 38-week-gestation female neonate who was born by vaginal delivery demonstrated occipital encephalocele, bilateral anophthalmia, cleft palate, lobulated tongue, micrognathia, bilateral dysplastic kidneys, polydactyly, and syndactyly. A detailed physical and laboratory examination is suggested in those cases having encephalocele.

Keywords: Encephalocele, Meckel-Gruber syndrome, multicystic dysplastic kidney, polydactyly

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