Facial dysmorphism and limb abnormalities of fetal valproate syndrome

A neonate born to nonconsanguineous parents was evaluated for dysmorphic features. The neonate was born at term by normal vaginal delivery. The mother has had epilepsy for 12 years and has been on sodium valproate (700 mg/day) since conception and throughout pregnancy. Examination revealed facial dysmorphism, including triangular forehead, sparse arched eyebrows, telecanthus, flat nasal bridge, long thin upper vermilion border, smooth philtrum, and low-set ears. The limb anomalies observed were arachnodactyly, wrist and elbow contractures, clinodactyly, hypoplastic toenails, and overlapping toes. The other dysmorphisms noted were widely spaced nipples and hypospadias. Ultrasonogram (USG) cranium showed bilateral choroid plexus cysts, and USG abdomen revealed bilateral mild hydronephrosis. 2D-Echocardiography revealed a small patent ductus arteriosus (PDA). A diagnosis of fetal valproate syndrome (FVS) was considered, and other differentials, including fetal alcohol syndrome and genetic conditions, were ruled out by a clinical geneticist review. The index neonate is currently on multidisciplinary follow-up. The index neonate had common features of FVS as described in the literature, in addition to wrist and elbow contractures. Apart from the anomalies, there is a significant risk for neurocognitive delay and neurodevelopmental disorders. Postnatally, these babies need multidisciplinary care and neurodevelopmental follow-up. Valproate use for treating epilepsy in pregnant women and women of childbearing age may be restricted, and alternative choices of ASMs with better safety profiles should be preferred. Facial dysmorphism and limb anomalies in fetal valproate syndrome may occur irrespective of the dose of sodium valproate. Fetal valproate syndrome may present with wrist and elbow contractures.