Preaxial ray reduction defects as part of valproic acid embryofetopathy

Reuven Sharony, Ann Garber, David Viskochil, Rhona Schreck, Lawrence D. Platt, Robert Ward, Bruce A. Buehler, John M. Graham

Research output: Contribution to journalArticlepeer-review

49 Scopus citations

Abstract

It is well known that prenatal exposure of valproic acid (VPA) may be associated with the occurrence of neural tube defects (Robert and Gibaud, 1982). Additional adverse effects related to VPA exposure include craniofacial abnormalities, skeletal defects, brain defects, cardiovascular defects, and urogenital defects (DiLiberti et al, 1984; Winter et al, 1987; Huot et al, 1987; Jager‐Roman et al, 1986; Martinez‐Frias, 1990). Recently, radial ray reduction has been reported as a severe type of skeletal defect associated with VPA exposure (Jager‐Roman et al, 1986; Huot et al, 1987; Verloes et al, 1990). We report two additional cases of this severe limb reduction defect as part of a broader pattern of altered morphogenesis in fetuses exposed to VPA and to confirm an association between such severe specific skeletal defects and VPA exposure. We briefly review teratologic studies in experimental animals which document the biologic plausibility of this association, and suggest that fetuses exposed to VPA undergo detailed prenatal ultrasonographic evaluation of the limbs.

Original languageEnglish (US)
Pages (from-to)909-918
Number of pages10
JournalPrenatal Diagnosis
Volume13
Issue number10
DOIs
StatePublished - Oct 1993

Keywords

  • Anticonvulsant teratogenicity
  • Limb defects
  • Preaxial limb defects
  • Radial ray defects
  • Valproic acid embryofetopathy

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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