Atypical Face Shape and Genomic Variants in Epilepsy

Abstract

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.

Keywords

• european epilepsy clinics
• dysmorphisms
• face shape abnormalities