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  • Alessandri, J L; Isidor, B; David, A; Martin-Coignard, D; Ghazouani, J; Ramful, D; Laville, J M; Le Caignec, C

    American journal of medical genetics. Part A, November 2010, Letnik: 152A, Številka: 11
    Journal Article

    Prenatal exposure to valproic acid (VA) is associated with an increased risk of congenital malformations, especially limb defects like radial ray defects. Tibial developmental field defect in VA embryopathy remains exceptional. We report on three patients presenting with tibial hypo/aplasia associated with either femoral bifurcation or radial ray defect following prenatal exposure to VA. Femoral bifurcation and tibial agenesis has been described in the Gollop-Wolfgang complex and in the tibial agenesis-ectrodactyly syndrome. Tibial agenesis has also been reported in VACTERL association. The relation between prenatal exposure to VA and tibial agenesis is discussed.