Discriminating power of localized three-dimensional facial morphology.
Many genetic syndromes involve a facial gestalt that suggests a preliminary diagnosis to an experienced clinical geneticist even before a clinical examination and genotyping are undertaken. Previously, using visualization and pattern recognition, we showed that dense surface models (DSMs) of full face shape characterize facial dysmorphology in Noonan and in 22q11 deletion syndromes. In this much larger study of 696 individuals, we extend the use of DSMs of the full face to establish accurate discrimination between controls and individuals with Williams, Smith-Magenis, 22q11 deletion, or Noonan syndromes and between individuals with different syndromes in these groups. However, the full power of the DSM approach is demonstrated by the comparable discriminating abilities of localized facial features, such as periorbital, perinasal, and perioral patches, and the correlation of DSM-based predictions and molecular findings. This study demonstrates the potential of face shape models to assist clinical training through visualization, to support clinical diagnosis of affected individuals through pattern recognition, and to enable the objective comparison of individuals sharing other phenotypic or genotypic properties.
Hammond
Peter
P
Eastman Dental Institute, University College London, London, WC1X 8LD, United Kingdom. p.hammond@eastman.ucl.ac.uk
Hutton
Tim J
TJ
Allanson
Judith E
JE
Buxton
Bernard
B
Campbell
Linda E
LE
Clayton-Smith
Jill
J
Donnai
Dian
D
Karmiloff-Smith
Annette
A
Metcalfe
Kay
K
Murphy
Kieran C
KC
Patton
Michael
M
Pober
Barbara
B
Prescott
Katrina
K
Scambler
Pete
P
Shaw
Adam
A
Smith
Ann C M
AC
Stevens
Angela F
AF
Temple
I Karen
IK
Hennekam
Raoul
R
Tassabehji
May
M
D000328:Adult; D000483:Alleles; D002892:Chromosomes, Human, Pair 22; D002897:Chromosomes, Human, Pair 7; D005145:Face / Q000473:pathology*; D005260:Female; D017353:Gene Deletion; D005819:Genetic Markers; D006801:Humans; D021621:Imaging, Three-Dimensional; D017404:In Situ Hybridization, Fluorescence; D016014:Linear Models; D008297:Male; D018895:Microsatellite Repeats; D008953:Models, Anatomic; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D010363:Pattern Recognition, Automated; D011110:Polymorphism, Genetic; D044465:White People / Q000235:genetics / Q000706:statistics & numerical data
D005819:Genetic Markers