Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature

Meckel-Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post axial polydactyly. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births. Highest incidence was rep...

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Detalles Bibliográficos
Autores principales: Parelkar, Sandesh V., Kapadnis, Satish P., Sanghvi, Beejal V., Joshi, Prashant B., Mundada, Dinesh, Oak, Sanjay N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3783728/
https://www.ncbi.nlm.nih.gov/pubmed/24082939
http://dx.doi.org/10.4103/1817-1745.117855
Descripción
Sumario:Meckel-Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post axial polydactyly. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births. Highest incidence was reported in Gujarati Indians. We report a rare case of Meckel-Gruber syndrome and review of literature.

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