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Volumn 167, Issue 3, 2015, Pages 529-536

Craniofacial dysmorphology in 22q11.2 deletion syndrome by 3D laser surface imaging and geometric morphometrics: Illuminating the developmental relationship to risk for psychosis

Author keywords

22q11.2 deletion syndrome; 3D laser surface imaging; Craniofacial dysmorphology; Geometric morphometrics; Schizophrenia; Velocardiofacial syndrome

Indexed keywords

ANATOMIC LANDMARK; ARTICLE; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CONTROLLED STUDY; EYE; FACE; FACE ASYMMETRY; FACE DYSMORPHIA; FEMALE; HEAD; HUMAN; IMAGE ANALYSIS; IMAGING; IMAGING SYSTEM; LASER SURFACE IMAGING; LIP; MALE; MORPHOMETRICS; MOUTH; NOSE; PHENOTYPIC VARIATION; PHILTRUM; PRINCIPAL COMPONENT ANALYSIS; SCHIZOPHRENIA; SIBLING; ADOLESCENT; CHILD; CHROMOSOME 22; CRANIOFACIAL ABNORMALITIES; DIGEORGE SYNDROME; GENETICS; PHENOTYPE; PRESCHOOL CHILD; PROCEDURES; PSYCHOTIC DISORDERS; THREE DIMENSIONAL IMAGING; YOUNG ADULT;

EID: 84922971915     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36893     Document Type: Article
Times cited : (18)

References (59)
  • 1
    • 44149086625 scopus 로고    scopus 로고
    • Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome
    • Aggarwal VS, Morrow BE. 2008. Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome. Dev Disabil 14:19-25.
    • (2008) Dev Disabil , vol.14 , pp. 19-25
    • Aggarwal, V.S.1    Morrow, B.E.2
  • 8
    • 79957563017 scopus 로고
    • Principal warps: Thin-plate splines and the decomposition of deformation
    • Bookstein FL. 1989. Principal warps: Thin-plate splines and the decomposition of deformation. IEEE Trans Pattern Anal Machine Intell 11:567-585.
    • (1989) IEEE Trans Pattern Anal Machine Intell , vol.11 , pp. 567-585
    • Bookstein, F.L.1
  • 10
    • 0031107378 scopus 로고    scopus 로고
    • Landmark methods for forms without landmarks: Morphometrics of group differences in outline shape
    • Bookstein FL. 1996. Landmark methods for forms without landmarks: Morphometrics of group differences in outline shape. Med Image Anal 1:225-243.
    • (1996) Med Image Anal , vol.1 , pp. 225-243
    • Bookstein, F.L.1
  • 11
    • 58649117974 scopus 로고    scopus 로고
    • The facial phenotype of the velo-cardio-facial syndrome
    • Butts SC. 2009. The facial phenotype of the velo-cardio-facial syndrome. Int J Pediatr Otorhinolaryngol 73:343-350.
    • (2009) Int J Pediatr Otorhinolaryngol , vol.73 , pp. 343-350
    • Butts, S.C.1
  • 14
    • 84865161384 scopus 로고    scopus 로고
    • Standard terminology for phenotypic variations: The elements of morphology project, its current progress, and future directions
    • Carey JC, Allanson JC, Hennekam RC, Biesecker LG. 2012. Standard terminology for phenotypic variations: The elements of morphology project, its current progress, and future directions. Hum Mutat 33:781-786.
    • (2012) Hum Mutat , vol.33 , pp. 781-786
    • Carey, J.C.1    Allanson, J.C.2    Hennekam, R.C.3    Biesecker, L.G.4
  • 18
    • 0027504078 scopus 로고
    • A morphometric analysis of human embryonic craniofacial growth in the median plane during primary palate formation
    • Diewert VM, Lozanoff S. 1993a. A morphometric analysis of human embryonic craniofacial growth in the median plane during primary palate formation. J Craniofac Genet Dev Biol 13:147-161.
    • (1993) J Craniofac Genet Dev Biol , vol.13 , pp. 147-161
    • Diewert, V.M.1    Lozanoff, S.2
  • 19
    • 0027515039 scopus 로고
    • Growth and morphogenesis of the human embryonic midface during primary palate formation analysed in frontal sections
    • Diewert VM, Lozanoff S. 1993b. Growth and morphogenesis of the human embryonic midface during primary palate formation analysed in frontal sections. J Craniofac Genet Dev Biol 13:162-183.
    • (1993) J Craniofac Genet Dev Biol , vol.13 , pp. 162-183
    • Diewert, V.M.1    Lozanoff, S.2
  • 20
    • 0027359375 scopus 로고
    • Computer reconstructions of human embryonic craniofacial morphology showing changes in relations between the face and brain during primary palate formation
    • Diewert VM, Lozanoff S, Choy V. 1993. Computer reconstructions of human embryonic craniofacial morphology showing changes in relations between the face and brain during primary palate formation. J Craniofac Genet Dev Biol 13:193-201.
    • (1993) J Craniofac Genet Dev Biol , vol.13 , pp. 193-201
    • Diewert, V.M.1    Lozanoff, S.2    Choy, V.3
  • 23
    • 23844517764 scopus 로고    scopus 로고
    • Modulation of Fgf8 activity during vertebrate brain development
    • Echevarria D, Belo JA, Martinez S. 2005. Modulation of Fgf8 activity during vertebrate brain development. Brain Res Rev 49:150-157.
    • (2005) Brain Res Rev , vol.49 , pp. 150-157
    • Echevarria, D.1    Belo, J.A.2    Martinez, S.3
  • 30
    • 24944476623 scopus 로고    scopus 로고
    • Facial surface analysis by 3D laser scanning and geometric morphometrics in relation to sexual dimorphism in cerebral-craniofacial morphogenesis and cognitive function
    • Hennessy RJ, McLearie S, Kinsella A, Waddington JL. 2005. Facial surface analysis by 3D laser scanning and geometric morphometrics in relation to sexual dimorphism in cerebral-craniofacial morphogenesis and cognitive function. J Anat 207:283-295.
    • (2005) J Anat , vol.207 , pp. 283-295
    • Hennessy, R.J.1    McLearie, S.2    Kinsella, A.3    Waddington, J.L.4
  • 31
    • 34247612980 scopus 로고    scopus 로고
    • Three-dimensional laser surface imaging and geometric morphometrics resolve frontonasal dysmorphology in schizophrenia
    • Hennessy RJ, Baldwin PA, Browne DJ, Kinsella A, Waddington JL. 2007. Three-dimensional laser surface imaging and geometric morphometrics resolve frontonasal dysmorphology in schizophrenia. Biol Psychiatry 61:1187-1194.
    • (2007) Biol Psychiatry , vol.61 , pp. 1187-1194
    • Hennessy, R.J.1    Baldwin, P.A.2    Browne, D.J.3    Kinsella, A.4    Waddington, J.L.5
  • 32
    • 77956187052 scopus 로고    scopus 로고
    • Frontonasal dysmorphology in bipolar disorder by 3D laser surface imaging and geometric morphometrics: Comparisions with schizophrenia
    • Hennessy RJ, Baldwin PA, Browne DJ, Kinsella A, Waddington JL. 2010. Frontonasal dysmorphology in bipolar disorder by 3D laser surface imaging and geometric morphometrics: Comparisions with schizophrenia. Schizophr Res 122:63-71.
    • (2010) Schizophr Res , vol.122 , pp. 63-71
    • Hennessy, R.J.1    Baldwin, P.A.2    Browne, D.J.3    Kinsella, A.4    Waddington, J.L.5
  • 33
    • 84860541360 scopus 로고    scopus 로고
    • Relationship between reaction time, fine motor control, and visual-spatial perception on vigilance and visual-motor tasks in 22q11.2 deletion syndrome
    • Howley SA, Prasad SE, Pender NP, Murphy KC. 2012. Relationship between reaction time, fine motor control, and visual-spatial perception on vigilance and visual-motor tasks in 22q11.2 deletion syndrome. Res Dev Disabil 33:1495-1502.
    • (2012) Res Dev Disabil , vol.33 , pp. 1495-1502
    • Howley, S.A.1    Prasad, S.E.2    Pender, N.P.3    Murphy, K.C.4
  • 36
    • 0029314937 scopus 로고
    • Human prenatal craniofacial development related to brain development under normal and pathological conditions
    • Kjaer I. 1995. Human prenatal craniofacial development related to brain development under normal and pathological conditions. Acta Odontol Scand 53:135-143.
    • (1995) Acta Odontol Scand , vol.53 , pp. 135-143
    • Kjaer, I.1
  • 37
    • 35348822545 scopus 로고    scopus 로고
    • Velocardiofacial syndrome, DiGeorge syndrome: The chromosome 22q11.2 deletion syndromes
    • Kobrynski LJ, Sullivan KE. 2007. Velocardiofacial syndrome, DiGeorge syndrome: The chromosome 22q11.2 deletion syndromes. Lancet 370:1443-1452.
    • (2007) Lancet , vol.370 , pp. 1443-1452
    • Kobrynski, L.J.1    Sullivan, K.E.2
  • 38
    • 77952927126 scopus 로고    scopus 로고
    • Systematic reviews of categorical versus continuum models in psychosis: Evidence for discontinuous subpopulations underlying a psychometric continuum. Implications for DSM-V, DSM-VI, and DSM-VII
    • Linscott RJ, van Os J. 2010. Systematic reviews of categorical versus continuum models in psychosis: Evidence for discontinuous subpopulations underlying a psychometric continuum. Implications for DSM-V, DSM-VI, and DSM-VII. Annu Rev Clin Psychol 6:391-419.
    • (2010) Annu Rev Clin Psychol , vol.6 , pp. 391-419
    • Linscott, R.J.1    van Os, J.2
  • 39
    • 23244451065 scopus 로고    scopus 로고
    • Molecular interactions co-ordinating the development of the forebrain and face
    • Marcucio RS, Cordero DR, Hu D, Helms JA. 2005. Molecular interactions co-ordinating the development of the forebrain and face. Dev Biol 284:48-61.
    • (2005) Dev Biol , vol.284 , pp. 48-61
    • Marcucio, R.S.1    Cordero, D.R.2    Hu, D.3    Helms, J.A.4
  • 40
    • 79954599478 scopus 로고    scopus 로고
    • Mechanisms that underlie co-variation of the brain and face
    • Marcucio RS, Young NM, Hu D, Hallgrimsson B. 2011. Mechanisms that underlie co-variation of the brain and face. Genesis 49:177-189.
    • (2011) Genesis , vol.49 , pp. 177-189
    • Marcucio, R.S.1    Young, N.M.2    Hu, D.3    Hallgrimsson, B.4
  • 41
    • 77955747295 scopus 로고    scopus 로고
    • Molecular mechanisms of cranial neural crest cell migration and patterning in craniofacial development
    • Minoux M, Rijli FM. 2010. Molecular mechanisms of cranial neural crest cell migration and patterning in craniofacial development. Development 137:2605-2621.
    • (2010) Development , vol.137 , pp. 2605-2621
    • Minoux, M.1    Rijli, F.M.2
  • 42
    • 77952328830 scopus 로고    scopus 로고
    • Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome
    • Momma K. 2010. Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome. Am J Cardiol 105:1617-1624.
    • (2010) Am J Cardiol , vol.105 , pp. 1617-1624
    • Momma, K.1
  • 43
    • 0037006412 scopus 로고    scopus 로고
    • Schizophrenia and velo-cardio-facial syndrome
    • Murphy KC. 2002. Schizophrenia and velo-cardio-facial syndrome. Lancet 359:426-430.
    • (2002) Lancet , vol.359 , pp. 426-430
    • Murphy, K.C.1
  • 44
    • 0032882849 scopus 로고    scopus 로고
    • High rates of schizophrenia in adults with velo-cardio-facial syndrome
    • Murphy KC, Jones LA, Owen MJ. 1999. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry 56:940-945.
    • (1999) Arch Gen Psychiatry , vol.56 , pp. 940-945
    • Murphy, K.C.1    Jones, L.A.2    Owen, M.J.3
  • 45
    • 84879406438 scopus 로고    scopus 로고
    • Epidemiological and clinical characterization following a first psychotic episode in major depressive disorder: Comparisons with schizophrenia and bipolar I disorder in the Cavan-Monaghan First Episode Psychosis Study (CAMFEPS)
    • Owoeye O, Kingston T, Scully PJ, Baldwin P, Browne D, Kinsella A, Russell V, O'Callaghan E, Waddington JL. 2013. Epidemiological and clinical characterization following a first psychotic episode in major depressive disorder: Comparisons with schizophrenia and bipolar I disorder in the Cavan-Monaghan First Episode Psychosis Study (CAMFEPS). Schizophr Bull 39:756-765.
    • (2013) Schizophr Bull , vol.39 , pp. 756-765
    • Owoeye, O.1    Kingston, T.2    Scully, P.J.3    Baldwin, P.4    Browne, D.5    Kinsella, A.6    Russell, V.7    O'Callaghan, E.8    Waddington, J.L.9
  • 47
    • 22144493861 scopus 로고    scopus 로고
    • Defining the clinical spectrum of deletion 22q11. 2
    • Robin NH, Shprintzen RJ. 2005. Defining the clinical spectrum of deletion 22q11. 2. J Pediatr 147:90-96.
    • (2005) J Pediatr , vol.147 , pp. 90-96
    • Robin, N.H.1    Shprintzen, R.J.2
  • 50
    • 0034921830 scopus 로고    scopus 로고
    • Local retinoid signalling coordinates forebrain and facial morphogenesis by maintaining FGF8 and SHH
    • Schneider RA, Hu D, Rubenstein JLR, Maden M, Helms JA. 2001. Local retinoid signalling coordinates forebrain and facial morphogenesis by maintaining FGF8 and SHH. Development 128:2755-2767.
    • (2001) Development , vol.128 , pp. 2755-2767
    • Schneider, R.A.1    Hu, D.2    Rubenstein, J.L.R.3    Maden, M.4    Helms, J.A.5
  • 52
    • 44149115417 scopus 로고    scopus 로고
    • Velo-cardio-facial syndrome: 30 years of study
    • Shprintzen RJ. 2008. Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev 14:3-10.
    • (2008) Dev Disabil Res Rev , vol.14 , pp. 3-10
    • Shprintzen, R.J.1
  • 54
    • 28444494717 scopus 로고    scopus 로고
    • It's all in your head: New insights into craniofacial development and deformation
    • Tapadia MD, Cordero DR, Helms JA. 2005. It's all in your head: New insights into craniofacial development and deformation. J Anatomy 207:461-477.
    • (2005) J Anatomy , vol.207 , pp. 461-477
    • Tapadia, M.D.1    Cordero, D.R.2    Helms, J.A.3
  • 55
    • 64849096860 scopus 로고    scopus 로고
    • A systematic review and meta-analysis of the psychosis continuum: evidence for a psychosis proneness-persistence-impairment model of psychotic disorder
    • van Os J, Linscott RJ, Myin-Germeys I, Delespaul P, Krabbendam L. 2009. A systematic review and meta-analysis of the psychosis continuum: evidence for a psychosis proneness-persistence-impairment model of psychotic disorder. Psychol Med 39:179-195.
    • (2009) Psychol Med , vol.39 , pp. 179-195
    • van Os, J.1    Linscott, R.J.2    Myin-Germeys, I.3    Delespaul, P.4    Krabbendam, L.5
  • 56
    • 0033029827 scopus 로고    scopus 로고
    • The neurodevelopmental basis of schizophrenia: Clinical clues from cerebro-craniofacial dysmorphogenesis, and the roots of a lifetime trajectory of disease
    • Waddington JL, Lane A, Larkin C, O'Callaghan E. 1999a. The neurodevelopmental basis of schizophrenia: Clinical clues from cerebro-craniofacial dysmorphogenesis, and the roots of a lifetime trajectory of disease. Biol Psychiatry 46:31-39.
    • (1999) Biol Psychiatry , vol.46 , pp. 31-39
    • Waddington, J.L.1    Lane, A.2    Larkin, C.3    O'Callaghan, E.4
  • 57
    • 0032744665 scopus 로고    scopus 로고
    • Early cerebro-craniofacial dysmorphogenesis in schizophrenia: A lifetime trajectory model from neurodevelopmental basis to "neuro-progressive" process
    • Waddington JL, Lane A, Scully P, Meagher D, Quinn J, Larkin C, O'Callaghan E. 1999b. Early cerebro-craniofacial dysmorphogenesis in schizophrenia: A lifetime trajectory model from neurodevelopmental basis to "neuro-progressive" process. J Psychiat Res 33:477-489.
    • (1999) J Psychiat Res , vol.33 , pp. 477-489
    • Waddington, J.L.1    Lane, A.2    Scully, P.3    Meagher, D.4    Quinn, J.5    Larkin, C.6    O'Callaghan, E.7
  • 58
    • 84859423247 scopus 로고    scopus 로고
    • Schizophrenia and the lifetime trajectory of psychotic illness: developmental neuroscience and pathobiology, redux
    • Brown AS, Patterson PH, editors. New York: Columbia University Press.
    • Waddington JL, Hennessy RJ, O'Tuathaigh CMP, Owoeye O, Russell V. 2012. Schizophrenia and the lifetime trajectory of psychotic illness: developmental neuroscience and pathobiology, redux. In: Brown AS, Patterson PH, editors. The Origins of Schizophrenia. New York: Columbia University Press, pp 3-21.
    • (2012) The Origins of Schizophrenia , pp. 3-21
    • Waddington, J.L.1    Hennessy, R.J.2    O'Tuathaigh, C.M.P.3    Owoeye, O.4    Russell, V.5
  • 59
    • 33646812163 scopus 로고    scopus 로고
    • Craniofacial malformations: intrinsic vs extrinsic neural crest cell defects in Treacher Collins and 22q11 deletion syndromes
    • Walker MB, Trainor PA. 2006. Craniofacial malformations: intrinsic vs extrinsic neural crest cell defects in Treacher Collins and 22q11 deletion syndromes. Clin Genet 69:471-479.
    • (2006) Clin Genet , vol.69 , pp. 471-479
    • Walker, M.B.1    Trainor, P.A.2


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