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CASE REPORT
Year : 2013  |  Volume : 2  |  Issue : 1  |  Page : 106-108

Meckel gruber syndrome: Report of two cases with review of literature


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
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Source of Support: None, Conflict of Interest: None


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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