edward lammer, md
In Memoriam
An Overview
Birth Defects Study
Conotruncal Heart Defects
Orofacial Clefts
Neural Tube Defects
Retinoic Acid Embryopathy
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Retinoic Acid Embryopathy and Vitamin A

Retinoic acids are analogues of vitamin A that act as the active form of the vitamin in establishing and maintaining epithelial differentiation and controlling many embryological genetic programs. All-trans-RA and other isomers act as ligands that bind specific nuclear receptors to form ligand-receptor complex that bind to regulatory DNA sequences and control transcription of genes, especially during embryogenesis. Isotretinoin (13-cis-RA) was licensed in the U.S., under the brand name Accutane) beginning in September 1982 for the treatment of severe cystic acne. Subsequently, adverse outcomes of pregnancies were identified of pregnancies during which women took RA. Follow-up studies of pregnancies exposed to 13-cis-RA have shown that it is a human teratogen that poses unusually high risks for major malformations, developmental disabilities, and abnormal growth. No active research projects with this study population are ongoing.

Recent publication:
Lammer EJ, Chen DT, Hoar RM, Agnish ND, Benke PJ, Braun JT, Curry CJ, Fernhoff PM, Grix AW, Lott IT, Richard JM, Sun SC. Retinoic acid embryopathy. N Engl J Med 1985; 313:837-41.

Lammer EJ. Patterns of malformation among fetuses and infants exposed to retinoic acid (isotretinoin). In: McLachlan J, Pratt RM, Markert CL (Eds.). Banbury Report 26:Developmental Toxicology: Mechanisms and Risk. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 1987. pp. 243-55.

Werler MM, Lammer EJ, Rosenberg L, Mitchell AA. Maternal vitamin A supplementation in relation to selected birth defects. Teratology 1990; 42:497-503.

Adams J, Lammer EJ. Relationship between dysmorphology and neuropsychological function in children exposed to isotretinoin in utero. In: Fujii T, Boer GJ (Eds), Functional Neuroteratology of Short-Term Exposure to Drugs. Tokyo: Teikyo University Press, 1991. pp. 159-170.

Lammer EJ, Armstrong D. Malformations of hindbrain structures among humans exposed to isotretinoin (13-cis-retinoic acid) during early embryogenesis. In: Morris-Kay G (ed), Retinoids in Normal Development and Teratogenesis. Oxford: Oxford University Press, 1992; pp 280-295.

Revised: Thursday, September 1, 2016 4:05 PM


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