| CASE REPORT |
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| Year : 2013 | Volume
: 2
| Issue : 1 | Page : 106-108 |
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Meckel gruber syndrome: Report of two cases with review of literature
Aneel Myageri, Vandana Grampurohit, Ravikala Rao
Department of Pathology, SDM College of Medical Sciences and Hospital, Sattur, Dharwad, Karnataka, India
Correspondence Address:
Aneel Myageri
Department of Pathology, SDM College of Medical Sciences and Hospital, Sattur, Dharwad, Karnataka
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/2249-4863.109971
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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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