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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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
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author Parelkar, Sandesh V.
Kapadnis, Satish P.
Sanghvi, Beejal V.
Joshi, Prashant B.
Mundada, Dinesh
Oak, Sanjay N.
author_facet Parelkar, Sandesh V.
Kapadnis, Satish P.
Sanghvi, Beejal V.
Joshi, Prashant B.
Mundada, Dinesh
Oak, Sanjay N.
author_sort Parelkar, Sandesh V.
collection PubMed
description 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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spelling pubmed-37837282013-09-30 Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature Parelkar, Sandesh V. Kapadnis, Satish P. Sanghvi, Beejal V. Joshi, Prashant B. Mundada, Dinesh Oak, Sanjay N. J Pediatr Neurosci Case Report 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. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3783728/ /pubmed/24082939 http://dx.doi.org/10.4103/1817-1745.117855 Text en Copyright: © Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Parelkar, Sandesh V.
Kapadnis, Satish P.
Sanghvi, Beejal V.
Joshi, Prashant B.
Mundada, Dinesh
Oak, Sanjay N.
Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature
title Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature
title_full Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature
title_fullStr Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature
title_full_unstemmed Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature
title_short Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature
title_sort meckel-gruber syndrome: a rare and lethal anomaly with review of literature
topic Case Report
url 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
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