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Aminopterin embryofetopathy

Orpha number ORPHA1908
Prevalence of rare diseases <1 / 1 000 000
Inheritance
  • Sporadic
Age of onset Neonatal/infancy
ICD 10 code
  • Q86.8
MIM number -
Synonym(s) Fetal aminopterin syndrome

Summary

Aminopterin is a folic acid antagonist used as an antineoplastic agent in the 50s and 60s. This agent was also used to induce abortion in women in the early 1950s and 17 cases of fetal malformation were reported after failed abortion with aminopterin administration between the 4th and 12th week of gestation. The fetuses presented with a strikingly similar pattern of anomalies including short stature, skull anomalies (delayed calvarial ossification, craniosynostosis, cloverleaf skull), hydrocephalus, abnormal auricles, ocular hypertelorism, micrognathia, and cleft palate. Some fetuses also showed distal limb anomalies and neural tube closure defects. Malformations have been observed among children of women who ingested aminopterin doses between 1 and 3 mg/d or higher doses during the first trimester of pregnancy. The risk of malformation associated with aminopterin exposure can be estimated at 50% from a number of case reports of normal pregnancies following failed abortion with aminopterin treatment. Author: Dr E. Robert (November 2002)*.

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