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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2013-01-01
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| Series: | Journal of Family Medicine and Primary Care |
| Subjects: | |
| Online Access: | http://www.jfmpc.com/article.asp?issn=2249-4863;year=2013;volume=2;issue=1;spage=106;epage=108;aulast=Myageri |
| _version_ | 1828728051853164544 |
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| author | Aneel Myageri Vandana Grampurohit Ravikala Rao |
| author_facet | Aneel Myageri Vandana Grampurohit Ravikala Rao |
| author_sort | Aneel Myageri |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-12T14:08:30Z |
| format | Article |
| id | doaj.art-247c38a2d1c74acf889b52cbcbe33245 |
| institution | Directory Open Access Journal |
| issn | 2249-4863 |
| language | English |
| last_indexed | 2024-04-12T14:08:30Z |
| publishDate | 2013-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Family Medicine and Primary Care |
| spelling | doaj.art-247c38a2d1c74acf889b52cbcbe332452022-12-22T03:29:57ZengWolters Kluwer Medknow PublicationsJournal of Family Medicine and Primary Care2249-48632013-01-012110610810.4103/2249-4863.109971Meckel gruber syndrome: Report of two cases with review of literatureAneel MyageriVandana GrampurohitRavikala RaoMeckel 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.http://www.jfmpc.com/article.asp?issn=2249-4863;year=2013;volume=2;issue=1;spage=106;epage=108;aulast=MyageriAutopsyfetal mortalityMeckel Gruber syndrome |
| spellingShingle | Aneel Myageri Vandana Grampurohit Ravikala Rao Meckel gruber syndrome: Report of two cases with review of literature Journal of Family Medicine and Primary Care Autopsy fetal mortality Meckel Gruber syndrome |
| 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 | Autopsy fetal mortality Meckel Gruber syndrome |
| url | http://www.jfmpc.com/article.asp?issn=2249-4863;year=2013;volume=2;issue=1;spage=106;epage=108;aulast=Myageri |
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