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Tibial developmental field defect in valproic acid embryopathy: Report on three cases
Author(s) -
Alessandri J.L.,
Isidor B.,
David A.,
MartinCoignard D.,
Ghazouani J.,
Ramful D.,
Laville J.M.,
Le Caignec C.
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33633
Subject(s) - medicine , agenesis , ectrodactyly , aplasia , valproic acid , anatomy , surgery , radiology , epilepsy , ectodermal dysplasia , psychiatry
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. © 2010 Wiley‐Liss, Inc.