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

J 2015

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

PRASAD, Sarah, Stanislav KATINA, Robin J. HENNESSY, Kieran C. MURPHY, Adrian W. BOWMAN et. al.

Basic information

Original name

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

Authors

PRASAD, Sarah (372 Ireland), Stanislav KATINA (703 Slovakia, guarantor, belonging to the institution), Robin J. HENNESSY (372 Ireland), Kieran C. MURPHY (372 Ireland), Adrian W. BOWMAN (826 United Kingdom of Great Britain and Northern Ireland) and John L. WADDINGTON (372 Ireland)

Edition

American Journal of Medical Genetics Part A, Malden, MA, USA, Wiley, 2015, 1552-4825

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

10103 Statistics and probability

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 2.082

RIV identification code

RIV/00216224:14310/15:00082396

Organization unit

Faculty of Science

DOI

http://dx.doi.org/10.1002/ajmg.a.36893

UT WoS

000350283400007

Keywords in English

22q11.2 deletion syndrome; velocardiofacial syndrome; schizophrenia; craniofacial dysmorphology; 3D laser surface imaging; geometric morphometrics

Abstract

V originále

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.

Links

CZ.1.07/2.2.00/15.0203, interní kód MU

Name: Univerzitní výuka matematiky v měnícím se světě (Acronym: Univerzitní výuka matematiky)

Investor: Ministry of Education, Youth and Sports of the CR, 2.2 Higher education

Citovat

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.

@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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