Abstract
The incidence of major malformations in the offspring of epileptic women is approximately 2-3 times that of the general population. The delineation of recognizable patterns of malformation associated with specific drug exposures in utero implicates drug therapy as a major causative factor. Review of the literature and recent evaluation of 3 children with intrauterine primidone exposure reveal a distinctive pattern of malformation secondary to primidone, i.e., fetal primidone effects.
The 3 affected children include an 18-month-old Hispanic boy and 2 white half siblings, a 13-year-old girl and an 8-year-old boy. In each case the mother took primidone daily throughout gestation. There was no family history of mental retardation or birth defects. The pattern of malformation was remarkably similar among the 3 children reported here and previous cases from the literature. Features include: developmental delay, ptosis, midfacial hypoplasia, flat nasal bridge, epi-canthus, telecanthus, short nose with anteverted nares, and 5th finger clinodactyly. Variable features include: seizures, hearing loss, upslanting palpebral fissures, unusual hair patterns, and short 5th metacarpals and/or metatarsals.
Data from these patients indicate that maternal primidone intake during gestation may be associated with a recognizable pattern of malformation in exposed offspring.
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Houme, H., Clericuzio, C. 1295 FETAL PRIMIDONE EFFECTS. Pediatr Res 19, 326 (1985). https://doi.org/10.1203/00006450-198504000-01319
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DOI: https://doi.org/10.1203/00006450-198504000-01319
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