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Meckel Gruber syndrome: A case report with review of literature
- 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.
- Subjects :
- renal dysplasia
polydactyly
meckel gruber syndrome
encephalocele
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.od......4883..f2fac41d80120d814d0ee807df81ea4f