Tibial developmental field defect in valproic acid embryopathy: Report on three cases

Am J Med Genet A. 2010 Nov;152A(11):2805-9. doi: 10.1002/ajmg.a.33633.


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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Comparative Genomic Hybridization
  • Female
  • Fetal Diseases / chemically induced*
  • Fetal Diseases / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Limb Deformities, Congenital / complications
  • Limb Deformities, Congenital / diagnostic imaging
  • Limb Deformities, Congenital / genetics
  • Male
  • Pregnancy
  • Prenatal Exposure Delayed Effects / chemically induced*
  • Prenatal Exposure Delayed Effects / genetics
  • Radiography
  • Tibia / abnormalities*
  • Tibia / diagnostic imaging
  • Valproic Acid / adverse effects*


  • Valproic Acid