Four infants who were exposed to sodium valproate or valproic acid during pregnancy are described. Common facial features in the three surviving infants include epicanthic folds, a flat nasal bridge, a broad nasal base, anteverted nostrils, a shallow philtrum, and a thin upper lip with a thick lower lip. Ridging of the metopic suture, congenital heart defect, postaxial polydactyly, and hypospadias were additional features in individual cases. In agreement with previous authors, we feel that there is a distinctive 'fetal valproate' phenotype.

Fetal valproate syndrome has a distinctive facial phenotype, with common features including epicanthic folds, flat nasal bridge, and anteverted nostrils.

Fetal valproate syndrome: is there a recognisable phenotype?

Key Takeaway: Fetal valproate syndrome has a distinctive facial phenotype, with common features including epicanthic folds, flat nasal bridge, and anteverted nostrils.