Dysmorphic features: An important clue to the diagnosis and severity of fetal anticonvulsant syndromes

Usha Kini ^1*, Naghme Adab ², Jaqui Vinten ², Alan Fryer ³ and Jill Clayton-Smith ¹

¹ St. Mary's Hospital, United Kingdom
² The Walton Centre for Neurology and Neurosurgery, United Kingdom
³ Royal Liverpool Children's Hospital, Alder Hey, United Kingdom

^* To whom correspondence should be addressed. E-mail: usha.kini{at}orh.nhs.uk.

Accepted 16 August 2005

Abstract

In utero exposure to antiepileptic drugs (AEDs) can result in several different teratogenic effects including major malformations, dysmorphic facial features and learning and behavioural problems. It is estimated that there is a 2-3 fold increase in the risk of malformations compared to the general population. The risk of cognitive impairment and behavioural problems is less clear. Objective: To report the frequency and specificity of individual dysmorphic features and to relate the dysmorphic facial phenotype to developmental outcome. Methods: In a retrospective study, we studied 375 children born to 219 mothers with epilepsy. The age of the study group ranged from 6 months to 16 years. Each child underwent a physical examination and a battery of neuropsychological tests. Dysmorphic features were scored from photographs on a blind basis by a panel of dysmorphologists. Results: 274 children were exposed to AEDs (63 to valproate, 94 to carbamazepine, 26 to phenytoin, 15 to other monotherapies and 76 to polytherapy). Major malformations were identified in 14.3% of children exposed to valproate in utero, 5.3% exposed to carbamazepine and 4% in the non exposed group. 46.8% of exposed children were correctly identified as having been exposed to AEDs in utero. There was a significant correlation between the verbal IQ and dysmorphic facial features in the valproate exposed children only. Conclusion: Children exposed to valproate have more distinctive facial features but a subtle and distinctive facial phenotype is also seen in children exposed to carbamazepine. 45.5% of unexposed children had some of the facial features associated with AED exposure, demonstrating that many of these features may be seen as part of normal variation and that the diagnosis of the fetal anticonvulsant syndrome (FACS) is difficult to make based on the facial gestalt alone. Developmental surveillance should be offered to children with prenatal exposure to AED, particularly in those with exposure to high doses of valproate.

Keywords: dysmorphic features, learning difficulties, malformations, teratogenicity, valproate

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