Molecular Medicine Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK.
Pediatrics. 2013 Mar;131(3):e779-88. doi: 10.1542/peds.2012-1371. Epub 2013 Feb 25.
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.
胎儿酒精综合征(FAS)的典型面部特征是短睑裂、直人中以及薄上唇。我们旨在帮助儿科医生检测胎儿酒精谱系中的面部畸形,尤其是在没有典型面部特征的非综合征重度暴露(HE)个体中。
在招募的 192 名开普有色人种儿童中,有 69 名儿童的母亲报告在怀孕期间戒酒。根据多方面的标准,其余儿童被临床分配到 FAS(n=22)、部分 FAS(n=26)或非综合征 HE(n=75)类别。我们使用密集的表面建模和 3D 面部照片的特征分析,确定临床分类与仅从面部形状诱导的分类之间的一致性,以可视化面部差异,并考虑面部形状与神经行为之间的预测联系。
面部分类在区分非暴露组与仅 FAS 组(面部:0.97-1.00;侧面:0.92)或与部分 FAS 组(面部:0.90;侧面:0.92)的分类时达到了显著的一致性。面部特征的可视化描绘了胎儿酒精谱中的畸形,并且在非综合征 HE 类别的一半中,面部特征图检测到了与产前酒精暴露一致的面部特征。与没有典型面部特征的非综合征 HE 受试者相比,这一亚组在智商和学习测试中的表现较差。
面部特征的热图和变形可视化可能有助于临床医生检测胎儿酒精谱中的面部畸形。面部特征图显示出识别缺乏典型面部表型但认知障碍的非综合征重度暴露儿童的潜力。