title: Does Dravet syndrome have a recognizable face?
abstract: We hypothesized that children with Dravet syndrome manifest specific facial features that can be identified by pediatric neurologists and rendered objective by standard photographic measurements. This study comprised two parts. In Part 1, photographs of children with Dravet syndrome were compiled into a booklet with patients and their siblings randomly mixed. The booklet was sent to pediatric neurologists who anonymously identified which children they thought were affected by the syndrome and which were siblings. Although pediatric neurologists generally agreed on whether children were affected or not (20/24 cases; 83%), they were frequently incorrect (12/20; 60%). In Part 2, standard photogrammetric techniques were used to provide 16 facial ratios from digital images. No significant difference in any measurement was evident between children with Dravet syndrome and unaffected siblings (P > 0.05, two-tailed t test). This study did not demonstrate a specific facial phenotype in Dravet syndrome.
authors: Department of Pediatrics, IWK Health Centre, Halifax, Nova Scotia, Canada.
authors: Kathleen J
authors: KJ
authors: Nolan
authors: Emily
authors: E
authors: Kay
authors: Carol S
authors: CS
authors: Camfield
authors: Peter R
authors: PR
authors: Camfield
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004831:Epilepsies, Myoclonic / Q000503:physiopathology*; D005145:Face; D005260:Female; D006801:Humans; D008297:Male; D010364:Pattern Recognition, Visual / Q000502:physiology*; D010781:Photography