Computer-based recognition of dysmorphic faces

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 × 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.

[1]  R. Winter.  What's in a face? , 1996, Nature Genetics.

[2]  Peter Hammond,et al.  Delineation and Visualisation of Congenital Abnormality using 3D Facial Images , 2001 .

[3]  Norbert Krüger,et al.  Face recognition by elastic bunch graph matching , 1997, Proceedings of International Conference on Image Processing.

[4]  A. Bankier,et al.  POSSUM: the microcomputer laser-videodisk syndrome information system. , 1989, Ophthalmic paediatrics and genetics.

[5]  J. P. Jones,et al.  An evaluation of the two-dimensional Gabor filter model of simple receptive fields in cat striate cortex. , 1987, Journal of neurophysiology.

[6]  Joachim M. Buhmann,et al.  Distortion Invariant Object Recognition in the Dynamic Link Architecture , 1993, IEEE Trans. Computers.

[7]  J E Allanson,et al.  Objective techniques for craniofacial assessment: what are the choices? , 1997, American journal of medical genetics.

[8]  A. Fryer,et al.  London Dysmorphology Database , 1991 .

[9]  Laurenz Wiskott,et al.  Phantom faces for face analysis , 1997, Proceedings of International Conference on Image Processing.

[10]  S. Stengel-Rutkowski,et al.  Anthropometric definitions of dysmorphic facial signs , 2004, Human Genetics.

[11]  Jan Wieghardt,et al.  Finding Faces in Cluttered Still Images with Few Examples , 2001, ICANN.

[12]  L. Whitaker.  Anthropometry of the Head and Face in Medicine. , 1983 .

[13]  J. Daugman.  Two-dimensional spectral analysis of cortical receptive field profiles , 1980, Vision Research.

[14]  Hyeonjoon Moon,et al.  The FERET evaluation methodology for face-recognition algorithms , 1997, Proceedings of IEEE Computer Society Conference on Computer Vision and Pattern Recognition.

[15]  J A McNamara,et al.  A method of cephalometric evaluation. , 1984, American journal of orthodontics.

[16]  A E Peterson,et al.  Soft tissue facial resemblance in families and syndrome-affected individuals. , 2001, American journal of medical genetics.