Discriminating Power of Localized Three-Dimensional Facial Morphology

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Discriminating Power of Localized Three-Dimensional Facial Morphology Peter Hammond, Tim J. Hutton, Judith E. Allanson, Bernard Buxton, Linda E. Campbell, Jill Clayton-Smith, Dian Donnai, Annette Karmiloff-Smith, Kay Metcalfe, Kieran C. Murphy, Michael Patton, Barbara Pober, Katrina Prescott, Pete Scambler, Adam Shaw, Ann C.M. Smith, Angela F. Stevens, I. Karen Temple, Raoul Hennekam, May Tassabehji The American Journal of Human Genetics Volume 77, Issue 6, Pages 999-1010 (December 2005) DOI: 10.1086/498396 Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 1 Facial phenotypes. A, Control; B, 22q11DS; C, NS; D, SMS; and E, WS. Each series is generated using a regression model of age and the first PCA mode of a DSM generated from faces in a homogeneous subgroup. The sequences do not use a common scale. The American Journal of Human Genetics 2005 77, 999-1010DOI: (10.1086/498396) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 2 Illustration of the three localized face patches used in the discrimination testing. Left, periorbital; center, perinasal; and right, perioral. The American Journal of Human Genetics 2005 77, 999-1010DOI: (10.1086/498396) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 3 Portrait and profile views of average faces for the controls and for each syndrome (not to a common scale). A, 22q11DS; B, Control; C, SMS; D, WS; E, Control adults; F, NS; G, WS adults. Face shape differences are better evaluated by viewing the dynamic morphs on the Eastman Dental Institute Web site. The American Journal of Human Genetics 2005 77, 999-1010DOI: (10.1086/498396) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 4 Alternative, cartoon representations of the control-syndrome discrimination performance in table 1. Each large ellipse represents the face, and the smaller inner ellipses represent the periorbital, perinasal, and perioral patches. The darkness of the shading of each ellipse reflects the classification performance, with black representing the lowest of the control-syndrome entries (at 81%), and white the highest. Thus, the darker the shading, the lower the classification performance. The American Journal of Human Genetics 2005 77, 999-1010DOI: (10.1086/498396) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 5 Comparison of exaggerated average faces of syndromic groups with the average control. Upper left, NS; upper right, SMS; lower left, 22q11DS; and lower right, WS. The color coding reflects the distance between the compared face surfaces. Red, regions most distant and internal to the mean control face. Blue, regions most distant and external. Other colors shown in the scales identify intermediate positions. Each figure has its own quantitative scale and also uses a different “zero” color for regions where the two surfaces coincide. It is not possible to employ a single scale to show both subtle and gross surface differences. Therefore, care must be taken in their interpretation. The American Journal of Human Genetics 2005 77, 999-1010DOI: (10.1086/498396) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 6 Average classification position between control and WS mean faces, for faces of four selected adults with WS for 20 DSMs computed from the randomized 90%–10% splits used to calculate average discrimination performance. CIs of 95% have been added to the average classification position. The background scatterplot shows the classification position of the 20 unseen test sets for the relevant DSM. The vertical broken lines mark the position of the two means at −1 and +1 respectively. All other positions are normalized to [−1,+1]. The American Journal of Human Genetics 2005 77, 999-1010DOI: (10.1086/498396) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 7 Average classification of four selected individuals with WS for the three localized face patches The American Journal of Human Genetics 2005 77, 999-1010DOI: (10.1086/498396) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 8 Summary of microsatellite analysis of polymorphic markers in the chromosome 7q11.23 deleted region in four putative WS patients. Note that genes around the microsatellite loci as well as the approximate distance between markers are shown at the bottom of the figure. ID = Patient identifier. U = Uninformative. ND = Not deleted. N/A = Not available. D = Deleted. p = Paternal allele. m = Maternal allele. The American Journal of Human Genetics 2005 77, 999-1010DOI: (10.1086/498396) Copyright © 2005 The American Society of Human Genetics Terms and Conditions