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Meckel Gruber Syndrome: occurrence in non-consanguineous marriages

Authors:

MVC de Silva ,

Department of Pathology, Faculty of Medicine, University of Colombo, LK
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HK Senanayake,

Department of Obstetrics and Gynaecology, Faculty of Medicine, University of Colombo, LK
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KDVP Siriwardana

Department of Pathology, Faculty of Medicine, University of Colombo, LK
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Abstract

Meckel Gruber syndrome is an uncommon, lethal, autosomal recessive disorder, associated consistently with polycystic kidneys, posterior encephalocoele and polydactly. We report three cases in non-consanguineous marriages, suggesting that the single gene defect occurs more commonly in non-consanguineous marriages than mutant genes associated with other autosomal recessive disorders that are usually related with consanguineous marriages. The usefulness of prenatal diagnosis is discussed.

(Index word: Meckel Gruber syndrome)

DOI: http://dx.doi.org/10.4038/cmj.v49i1.3285

Ceylon Medical Journal 2004; 49: 30-31

DOI: https://doi.org/10.4038/cmj.v49i1.3285
How to Cite: de Silva, M., Senanayake, H. and Siriwardana, K., 2011. Meckel Gruber Syndrome: occurrence in non-consanguineous marriages. Ceylon Medical Journal, 49(1), pp.30–31. DOI: http://doi.org/10.4038/cmj.v49i1.3285
Published on 15 Aug 2011.
Peer Reviewed

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