Related Experiment Video
Updated: Jun 8, 2026
10:42
Ex Vivo Expansion of Hematopoietic Stem Cells from Human Umbilical Cord Blood-derived CD34+ Cells Using Valproic Acid
Published on: April 11, 2019
Tibial developmental field defect in valproic acid embryopathy: Report on three cases
J L Alessandri1, B Isidor, A David
1Service de Réanimation Néonatale et Pédiatrique, CHR La Réunion, Saint-Denis, La Réunion, France. jean-luc.alessandri@chr-reunion.fr
American Journal of Medical Genetics. Part A
|October 16, 2010
Summary
Prenatal exposure to valproic acid (VA) can cause limb defects. This study reports rare cases of tibial hypo/aplasia, a severe developmental issue, linked to VA exposure in infants.
Area of Science:
- Teratology
- Developmental Biology
- Clinical Genetics
Background:
- Valproic acid (VA) is a known teratogen linked to congenital malformations, particularly limb defects.
- Radial ray defects are common in valproic acid embryopathy.
- Tibial developmental field defects are exceptionally rare in valproic acid embryopathy.
Observation:
- This study presents three cases of infants with tibial hypo/aplasia following prenatal exposure to valproic acid.
- Associated anomalies included femoral bifurcation and radial ray defects.
- These findings highlight a rare but significant manifestation of valproic acid embryopathy.
Findings:
- Prenatal valproic acid exposure is associated with tibial hypo/aplasia, a rare limb malformation.
- The observed cases suggest a potential link between valproic acid and tibial developmental field defects.
- The spectrum of valproic acid embryopathy may include severe lower limb anomalies.
Implications:
- These findings expand the understanding of valproic acid teratogenicity.
- Early identification and counseling for pregnant individuals using valproic acid are crucial.
- Further research is needed to elucidate the mechanisms underlying valproic acid-induced tibial defects.
Related Concept Videos
01:07Teratogenicity
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
01:20Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...