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American Academy of Pediatrics
Article

Facial Dysmorphism Across the Fetal Alcohol Spectrum

Michael Suttie, Tatiana Foroud, Leah Wetherill, Joseph L. Jacobson, Christopher D. Molteno, Ernesta M. Meintjes, H. Eugene Hoyme, Nathaniel Khaole, Luther K. Robinson, Edward P. Riley, Sandra W. Jacobson and Peter Hammond
Pediatrics March 2013, 131 (3) e779-e788; DOI: https://doi.org/10.1542/peds.2012-1371
Michael Suttie
aMolecular Medicine Unit, UCL Institute of Child Health, London, United Kingdom;
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Tatiana Foroud
bDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana;
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Leah Wetherill
bDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana;
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Joseph L. Jacobson
cDepartment of Psychiatry and Behavioral Neurosciences, Wayne State University School of Medicine, Detroit, Michigan;
Departments of dHuman Biology and
ePsychiatry and Mental Health, University of Cape Town, Faculty of Health Sciences, Cape Town, South Africa;
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Christopher D. Molteno
ePsychiatry and Mental Health, University of Cape Town, Faculty of Health Sciences, Cape Town, South Africa;
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Ernesta M. Meintjes
Departments of dHuman Biology and
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H. Eugene Hoyme
fSanford School of Medicine, University of South Dakota, Vermillion, South Dakota;
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Nathaniel Khaole
Departments of dHuman Biology and
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Luther K. Robinson
gState University of New York, Buffalo, New York; and
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Edward P. Riley
hDepartment of Psychology, College of Sciences, San Diego State University, San Diego, California
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Sandra W. Jacobson
cDepartment of Psychiatry and Behavioral Neurosciences, Wayne State University School of Medicine, Detroit, Michigan;
Departments of dHuman Biology and
ePsychiatry and Mental Health, University of Cape Town, Faculty of Health Sciences, Cape Town, South Africa;
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Peter Hammond
aMolecular Medicine Unit, UCL Institute of Child Health, London, United Kingdom;
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Abstract

OBJECTIVE: Classic facial characteristics of fetal alcohol syndrome (FAS) are shortened palpebral fissures, smooth philtrum, and thin upper vermillion. We aim to help pediatricians detect facial dysmorphism across the fetal alcohol spectrum, especially among nonsyndromal heavily exposed (HE) individuals without classic facial characteristics.

METHODS: Of 192 Cape Coloured children recruited, 69 were born to women who reported abstaining from alcohol during pregnancy. According to multifaceted criteria, the remainder were allocated clinically to the FAS (n = 22), partial FAS (n = 26) or nonsyndromal HE (n = 75) categories. We used dense surface modeling and signature analyses of 3-dimensional facial photographs to determine agreement between clinical categorization and classifications induced from face shape alone, to visualize facial differences, and to consider predictive links between face shape and neurobehavior.

RESULTS: Face classification achieved significant agreement with clinical categories for discrimination of nonexposed from FAS alone (face: 0.97–1.00; profile: 0.92) or with the addition of partial FAS (face: 0.90; profile: 0.92). Visualizations of face signatures delineated dysmorphism across the fetal alcohol spectrum and in half of the nonsyndromal HE category face signature graphs detected facial characteristics consistent with prenatal alcohol exposure. This subgroup performed less well on IQ and learning tests than did nonsyndromal subjects without classic facial characteristics.

CONCLUSIONS: Heat maps and morphing visualizations of face signatures may help clinicians detect facial dysmorphism across the fetal alcohol spectrum. Face signature graphs show potential for identifying nonsyndromal heavily exposed children who lack the classic facial phenotype but have cognitive impairment.

KEY WORDS
  • facial dysmorphism
  • fetal alcohol spectrum disorders
  • fetal alcohol syndrome
  • dense surface modeling
  • signature graphs
  • prenatal alcohol exposure
  • alcohol-related neurodevelopmental disorder
  • Abbreviations:
    CVLT-C—California Verbal Learning Test —
    Children’s Version
    3D —
    3-dimensional
    DSM —
    dense surface model
    FAS —
    fetal alcohol syndrome
    FASD —
    fetal alcohol spectrum disorder
    HC —
    healthy control
    HE —
    nonsyndromal heavy alcohol exposure
    HE1 —
    nonsyndromal heavy exposed with FAS/PFAS-like face signature
    HE2 —
    nonsyndromal heavy exposed with more control-like face signature
    PFAS —
    partial fetal alcohol syndrome
    ROC —
    receiver operating characteristic
    UCT —
    University of Cape Town
    WISC IV —
    Fourth edition of Wechsler Intelligence Scale for Children
    • Accepted November 19, 2012.
    • Copyright © 2013 by the American Academy of Pediatrics

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    Pediatrics
    Vol. 131, Issue 3
    1 Mar 2013
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    Facial Dysmorphism Across the Fetal Alcohol Spectrum
    Michael Suttie, Tatiana Foroud, Leah Wetherill, Joseph L. Jacobson, Christopher D. Molteno, Ernesta M. Meintjes, H. Eugene Hoyme, Nathaniel Khaole, Luther K. Robinson, Edward P. Riley, Sandra W. Jacobson, Peter Hammond
    Pediatrics Mar 2013, 131 (3) e779-e788; DOI: 10.1542/peds.2012-1371

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    Facial Dysmorphism Across the Fetal Alcohol Spectrum
    Michael Suttie, Tatiana Foroud, Leah Wetherill, Joseph L. Jacobson, Christopher D. Molteno, Ernesta M. Meintjes, H. Eugene Hoyme, Nathaniel Khaole, Luther K. Robinson, Edward P. Riley, Sandra W. Jacobson, Peter Hammond
    Pediatrics Mar 2013, 131 (3) e779-e788; DOI: 10.1542/peds.2012-1371
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    • Digital assessment of the fetal alcohol syndrome facial phenotype: reliability and agreement study
    • Comparing diagnostic classification of neurobehavioral disorder associated with prenatal alcohol exposure with the Canadian fetal alcohol spectrum disorder guidelines: a cohort study
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    Keywords

    • facial dysmorphism
    • fetal alcohol spectrum disorders
    • fetal alcohol syndrome
    • dense surface modeling
    • signature graphs
    • prenatal alcohol exposure
    • alcohol-related neurodevelopmental disorder
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