Meckel Gruber Syndrome: Report of Two Cases with Review of Literature

Meckel Gruber syndrome (MKS) is a lethal, autosomal, recessive, multisystemic disorder, associated with mutations affecting ciliogenesis. Since the time it was first reported; only 200 cases have been reported. From January 2004 to December 2010, we evaluated 268 fetal autopsies in our institute, in...

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Autores principales: Myageri, Aneel, Grampurohit, Vandana, Rao, Ravikala
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/PMC3894002/
https://www.ncbi.nlm.nih.gov/pubmed/24479060
http://dx.doi.org/10.4103/2249-4863.109971
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author Myageri, Aneel
Grampurohit, Vandana
Rao, Ravikala
author_facet Myageri, Aneel
Grampurohit, Vandana
Rao, Ravikala
author_sort Myageri, Aneel
collection PubMed
description Meckel Gruber syndrome (MKS) is a lethal, autosomal, recessive, multisystemic disorder, associated with mutations affecting ciliogenesis. Since the time it was first reported; only 200 cases have been reported. From January 2004 to December 2010, we evaluated 268 fetal autopsies in our institute, in the Department of Pathology; two of these fetuses were diagnosed as MKS. MKS is characterized by occipital meningoencephalocele, cystic kidneys, postaxial polydactyly, and fibrosis in the liver. MKS cases show genetic heterogeneity. MKS results in 100% fetal or neonatal mortality. As MKS has a high risk (25%) of recurrence; parents should be counseled for future pregnancies.
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spelling pubmed-38940022014-01-29 Meckel Gruber Syndrome: Report of Two Cases with Review of Literature Myageri, Aneel Grampurohit, Vandana Rao, Ravikala J Family Med Prim Care Case Report Meckel Gruber syndrome (MKS) is a lethal, autosomal, recessive, multisystemic disorder, associated with mutations affecting ciliogenesis. Since the time it was first reported; only 200 cases have been reported. From January 2004 to December 2010, we evaluated 268 fetal autopsies in our institute, in the Department of Pathology; two of these fetuses were diagnosed as MKS. MKS is characterized by occipital meningoencephalocele, cystic kidneys, postaxial polydactyly, and fibrosis in the liver. MKS cases show genetic heterogeneity. MKS results in 100% fetal or neonatal mortality. As MKS has a high risk (25%) of recurrence; parents should be counseled for future pregnancies. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3894002/ /pubmed/24479060 http://dx.doi.org/10.4103/2249-4863.109971 Text en Copyright: © Journal of Family Medicine and Primary Care 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
Myageri, Aneel
Grampurohit, Vandana
Rao, Ravikala
Meckel Gruber Syndrome: Report of Two Cases with Review of Literature
title Meckel Gruber Syndrome: Report of Two Cases with Review of Literature
title_full Meckel Gruber Syndrome: Report of Two Cases with Review of Literature
title_fullStr Meckel Gruber Syndrome: Report of Two Cases with Review of Literature
title_full_unstemmed Meckel Gruber Syndrome: Report of Two Cases with Review of Literature
title_short Meckel Gruber Syndrome: Report of Two Cases with Review of Literature
title_sort meckel gruber syndrome: report of two cases with review of literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3894002/
https://www.ncbi.nlm.nih.gov/pubmed/24479060
http://dx.doi.org/10.4103/2249-4863.109971
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