Recognition in adult patients of malformations induced by folic-acid antagonists

E. W. Reich, R. P. Cox, M. H. Becker, N. B. Genieser, J. G. McCarthy, J. M. Converse

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


The folic-acid antagonists, aminopterin and its methyl derivative methotrexate have long been implicated as fetal teratogens. In a review of the literature, Wilson estimated that 23% of infants delivered at term after maternal ingestion of folic-acid antagonists (during pregnancy) had major abnormalities of bony growth and development. Other organ systems appeared unaffected by these teratogens. To date, only 3 children have been described who survived the neonatal period, and they had markedly similar clinical and radiologic findings. This report describes 3 young adults with similar phenotypes. The mothers of 2 of these patients tried unsuccessfully to abort their pregnancies during the first trimester. Aminopterin was identified as the abortifacient drug by one mother and was probably used by the second. The third patient, whose mother refused to be interviewed, may also be an example of the folic-acid antagonist syndrome. Alternatively, he also resembles the child described by Herrmann and Opitz whose phenotype resembles those of all our patients. The findings in our patients confirm previous reports that damage sustained by the fetus after exposure to folic-acid antagonists results primarly in growth retardation and malformations of the skull, face, and limbs.

Original languageEnglish (US)
Pages (from-to)139-160
Number of pages22
JournalBirth Defects: Original Article Series
Issue number6 B
StatePublished - Dec 1 1978

ASJC Scopus subject areas

  • Developmental Biology
  • Genetics(clinical)


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