Facial Dysmorphism Across the Fetal Alcohol Spectrum

Molecular Medicine Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK. .
PEDIATRICS (Impact Factor: 5.47). 03/2013; 131(3):e779-88. DOI: 10.1542/peds.2012-1371
Source: PubMed


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.
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.
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.
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.

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Available from: Leah Wetherill, Jan 15, 2016
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    • "igh as 2e5 / 100 for FASD in the developed world ( May et al . , 2014 ; May et al . , 2011 ; May et al . , 2009 ) , making it a leading cause of mental disability . Alcohol is a potent teratogen that can cross the placental barrier and lead to stunted growth ( Ulleland , 1972 ) , facial dys - morphia including smooth philtrum and thin upper lips ( Suttie et al . , 2013 ) , reduced brain volume ( X . Chen et al . , 2012 ; Lebel et al . , 2012 ) , deficits in various forms of learning and memory ( Coles et al . , 1991 ; Lewis et al . , 2015 ) as well as attentional and behavioural problems ( Brown et al . , 1991 ) and psychiatric ill - nesses like depression ( O ' Connor et al . , 2002 ; Roebuck et al ."
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    • "These presentations are likely to be only a small proportion of eligible cases [5], and FAS is the only disorder that can be diagnosed in the absence of information on prenatal alcohol exposure due to the specificity of the three characteristic FAS facial anomalies. Although there is evidence of a correlation between the presence of characteristic FAS facial anomalies, prenatal alcohol exposure and brain dysfunction [18] which suggests that partial expressions of the FAS facial phenotype may be important risk factors for brain damage associated with prenatal alcohol exposure [51,52], there is insufficient evidence to justify relaxation of this referral criterion at this time. "
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    Full-text · Article · Jul 2014 · BMC Pediatrics
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    • "Instead, growth deficiencies, facial dysmorphology, and central nervous system dysfunctions are typically used to diagnose and categorize severity of exposure. Diagnosis is challenging as facial anomalies may be subtle or absent (Suttie et al., 2013). "
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