Researchers at the Institute of Neurology, Queen Square, London; Children’s Hospital, Florence, Italy; and other centers in the UK, Belgium, and the Netherlands studied face shape abnormalities in 118 children and adults attending three European epilepsy clinics, using an objective measure called Face Shape Difference to show that those with pathogenic structural variants have a significantly atypical face shape. In a second group of 63 patients the predictive accuracy of the measure showed high sensitivity (80% for whole face, 60% for periorbital and perinasal regions) and specificity (78% for whole face and perinasal regions, 69% for periorbital region). Computer-based stereophotogrammetry and dense surface models were effective in detecting subtle relevant face shape abnormalities or dysmorphisms in patients with epilepsy and pathogenic structural genomic variants, as determined by chromosome microarray. [1]

COMMENT. Patients with epilepsy and pathogenic structural genomic microarray variants have an objectively more atypical face shape compared with those without. The authors suggest that an evaluation for facial dysmorphism should be part of the clinical work-up for epilepsy. The concept of a “facies epileptica” as defined by Turner [2], is now regarded as unacceptable. Given the heterogeneity of epilepsy, 3D stereophotogrammetry and dense surface models are not expected to identify a specific “face” associated with epilepsy, and actual facial shapes are as varied as the underlying pathogenic structural variants. An objective measure of face shape variation might be used in clinical selection of patients with epilepsy who should be considered for microarray chromosome analysis.