| PRASAD, Sarah, Stanislav KATINA, Robin J. HENNESSY, Kieran C. MURPHY, Adrian W. BOWMAN and John L. WADDINGTON. Craniofacial Dysmorphology in 22q11.2 Deletion Syndrome by 3D Laser Surface Imaging and Geometric Morphometrics: Illuminating the Developmental Relationship to Risk for Psychosis. American Journal of Medical Genetics Part A. Malden, MA, USA: Wiley, 2015, vol. 167, No 3, p. 529-536. ISSN 1552-4825. Available from: https://dx.doi.org/10.1002/ajmg.a.36893. |
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@article{1226862,
author = {Prasad, Sarah and Katina, Stanislav and Hennessy, Robin J. and Murphy, Kieran C. and Bowman, Adrian W. and Waddington, John L.},
article_location = {Malden, MA, USA},
article_number = {3},
doi = {http://dx.doi.org/10.1002/ajmg.a.36893},
keywords = {22q11.2 deletion syndrome; velocardiofacial syndrome; schizophrenia; craniofacial dysmorphology; 3D laser surface imaging; geometric morphometrics},
language = {eng},
issn = {1552-4825},
journal = {American Journal of Medical Genetics Part A},
title = {Craniofacial Dysmorphology in 22q11.2 Deletion Syndrome by 3D Laser Surface Imaging and Geometric Morphometrics: Illuminating the Developmental Relationship to Risk for Psychosis},
url = {http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36893/abstract},
volume = {167},
year = {2015}
}
TY - JOUR
ID - 1226862
AU - Prasad, Sarah - Katina, Stanislav - Hennessy, Robin J. - Murphy, Kieran C. - Bowman, Adrian W. - Waddington, John L.
PY - 2015
TI - Craniofacial Dysmorphology in 22q11.2 Deletion Syndrome by 3D Laser Surface Imaging and Geometric Morphometrics: Illuminating the Developmental Relationship to Risk for Psychosis
JF - American Journal of Medical Genetics Part A
VL - 167
IS - 3
SP - 529-536
EP - 529-536
PB - Wiley
SN - 15524825
KW - 22q11.2 deletion syndrome
KW - velocardiofacial syndrome
KW - schizophrenia
KW - craniofacial dysmorphology
KW - 3D laser surface imaging
KW - geometric morphometrics
UR - http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36893/abstract
L2 - http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36893/abstract
N2 - 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.
ER -
PRASAD, Sarah, Stanislav KATINA, Robin J. HENNESSY, Kieran C. MURPHY, Adrian W. BOWMAN and John L. WADDINGTON. Craniofacial Dysmorphology in 22q11.2 Deletion Syndrome by 3D Laser Surface Imaging and Geometric Morphometrics: Illuminating the Developmental Relationship to Risk for Psychosis. \textit{American Journal of Medical Genetics Part A}. Malden, MA, USA: Wiley, 2015, vol.~167, No~3, p.~529-536. ISSN~1552-4825. Available from: https://dx.doi.org/10.1002/ajmg.a.36893.
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