Craniofacial Dysmorphology in 22q11.2 Deletion Syndrome by 3D Laser Surface Imaging and Geometric Morphometrics: Illuminating the Developmental Relationship to Risk for Psychosis

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Authors	PRASAD Sarah KATINA Stanislav HENNESSY Robin J. MURPHY Kieran C. BOWMAN Adrian W. WADDINGTON John L.
Year of publication	2015
Type	Article in Periodical
Magazine / Source	American Journal of Medical Genetics Part A
MU Faculty or unit	Faculty of Science
Citation
Web	http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36893/abstract
Doi	http://dx.doi.org/10.1002/ajmg.a.36893
Field	Applied statistics, operation research
Keywords	22q11.2 deletion syndrome; velocardiofacial syndrome; schizophrenia; craniofacial dysmorphology; 3D laser surface imaging; geometric morphometrics
Description	Persons with 22q11.2 deletion syndrome (22q11.2DS) are characterized inter alia by facial dysmorphology and greatly increased risk for psychotic illness. Recent studies indicate facial dysmorphology in adults with schizophrenia. This study evaluates the extent to which the facial dysmorphology of 22q11.2DS is similar to or different from that evident in schizophrenia. Twenty-one 22q11.2DS-sibling control pairs were assessed using 3Dlaser surface imaging.Geometricmorphometrics was applied to 30 anatomical landmarks, 480 geometrically homologous semi-landmarks on curves and 1720 semi-landmarks interpolated on each 3D facial surface. Principal component (PC) analysis of overall shape space indicated PC2 to strongly distinguish 22q11.2DS from controls. Visualization of PC2 indicated 22q11.2DS and schizophrenia to be similar in terms of overall widening of the upper face, lateral displacement of the eyes/ orbits, prominence of the cheeks, narrowing of the lower face, narrowing of nasal prominences and posterior displacement of the chin; they differed in terms of facial length (increased in 22q11.2DS, decreased in schizophrenia), mid-face and nasal prominences (displaced upwards and outwards in 22q11.2DS, less prominent in schizophrenia); lips (more prominent in 22q11.2DS; less prominent in schizophrenia) and mouth (open mouth posture in 22q11.2DS; closed mouth posture in schizophrenia). These findings directly implicate dysmorphogenesis in a cerebral-craniofacial domain that is common to 22q11.2DS and schizophrenia and which may repay further clinical and genetic interrogation in relation to the developmental origins of psychotic illness.
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