Meckel Gruber syndrome: A case report with review of literature
Saime Sundus-Uygun 1, Mesut Sivri 2, Ahmet Topsakal 1, Ahmet Hakan Dikener 1, Hanifi Soylu 1, Ali Annagur 1 *
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1 Department of Neonatology, Selcuk University Faculty of Medicine, Konya, Turkey
2 Department of Radiology, Selcuk University Faculty of Medicine, Konya, Turkey
* Corresponding Author

Abstract

Meckel-Gruber syndrome, which is firstly described by Friedrich Meckel and Georg B. Gruber, is an autosomal recessive disorder that is characterized triad of occipital encephalocele, bilateral renal dysplasia and polydactyly. Because of the genetic heterogeneity, multiple organs can be affected. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births. We have reported a male baby born at 37-week gestation, who has occipital encephalocele, polydactyly and cystic dysplasia of both kidneys. As a result of these clinical findings, Meckel-Gruber Syndrome is suspected for his baby. This study is presented to draw attention to the Meckel Gruber Syndrome which has high risk of recurrence and early diagnosis by ultrasonographic screening can be confident.

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Case Report

https://doi.org/10.29333/ejgm/81741

EUR J GEN MED, 2017 - Volume 14 Issue 4, pp. 108-110

Publication date: 12 Dec 2017

Article Views: 838

Article Downloads: 655

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