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  • Title: Meckel Gruber syndrome: occurrence in non-consanguineous marriages.
    Author: de Silva MV, Senanayake H, Siriwardana KD.
    Journal: Ceylon Med J; 2004 Mar; 49(1):30-1. PubMed ID: 15255329.
    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.
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