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Meckel Gruber syndrome: A case report with review of literature

Authors :
Uygun, Saime Sundus
Sivri, Mesut
Topsakal, Ahmet
Dikener, Ahmet Hakan
Soylu, Hanifi
Annagur, Ali
Selçuk Üniversitesi
Publication Year :
2017
Publisher :
MODESTUM LTD, 2017.

Abstract

WOS: 000419686600005<br />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.

Details

Language :
English
Database :
OpenAIRE
Accession number :
edsair.od......4883..f2fac41d80120d814d0ee807df81ea4f