title: Computer-based recognition of dysmorphic faces.
abstract: Genetic syndromes often involve craniofacial malformations. We have investigated whether a computer can recognize disease-specific facial patterns in unrelated individuals. For this, 55 photographs (256 x 256 pixel) of patients with mucopolysaccharidosis type III (n=6), Cornelia de Lange (n=12), fragile X (n=12), Prader-Willi (n=12), and Williams-Beuren (n=13) syndromes were preprocessed by a Gabor wavelet transformation. By comparing the feature vectors at 32 facial nodes, 42/55 (76%) of the patients were correctly classified. In another four patients (7%), the correct and an incorrect diagnosis scored equally well. Clinical geneticists who were shown the same photographs achieved a recognition rate of 62%. Our results prove that certain syndromes are associated with a specific facial pattern and that this pattern can be described in mathematical terms.
authors.affiliation: Institut für Neuroinformatik, Ruhr-Universität Bochum, Germany.
authors.forename: Hartmut S
authors.initials: HS
authors.lastname: Loos
authors.forename: Dagmar
authors.initials: D
authors.lastname: Wieczorek
authors.forename: Rolf P
authors.initials: RP
authors.lastname: Würtz
authors.forename: Christoph
authors.initials: C
authors.lastname: von der Malsburg
authors.forename: Bernhard
authors.initials: B
authors.lastname: Horsthemke
mesh_terms: D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D019066:Facies; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008297:Male; D010363:Pattern Recognition, Automated; D010781:Photography / Q000379:methods*; D013577:Syndrome