A case definition and photographic screening tool for the facial phenotype of fetal alcohol syndrome
A case definition and photographic screening tool for the facial phenotype of fetal alcohol syndrome
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DOI：
10.1016/s0022-3476(96)70187-7
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发表时间：
1996-07-01
影响因子：
5.1
通讯作者：
Clarren, SK
中科院分区：
文献类型：
--
作者：
Astley, SJ;Clarren, SK
目的：本研究的目的是证明胎儿酒精综合征（FAS）面部表型的定量、多变量病例定义可以从FAS个体的照片中得出，并证明这种病例定义和摄影方法如何用于开发有效、准确和精确的筛查工具、诊断辅助工具和可能的监测工具。将42名FAS受试者（从出生到27岁）的正面面部照片与84名无FAS的受试者进行匹配。研究人群被随机分为两半。第1组用于识别最能区分患有和不患有FAS的个体的面部特征。结果：在第1组中，逐步判别分析确定了三个面部特征（减少睑裂长度/内眦距离比，光滑的人中，和薄上唇）作为聚类的功能，区分个人与不FAS在第1和第2组的准确率为100%。灵敏度和特异性不受种族，性别和age.Conclusions：来自照片的表型病例定义准确区分个人与不FAS，展示了这种方法的潜力，开发筛选，诊断和监测工具。这一方法的有效性和可推广性有待进一步评估。
Objectives: The purpose of this study was to demonstrate that a quantitative, multivariate case definition of the fetal alcohol syndrome (FAS) facial phenotype could be derived from photographs of individuals with FAS and to demonstrate how this case definition and photographic approach could be used to develop efficient, accurate, and precise screening tools, diagnostic aids, and possibly surveillance tools.Study design: Frontal facial photographs of 42 subjects (from birth to 27 years of age) with FAS were matched to 84 subjects without FAS. The study population was randomly divided in half. Group 1 was used to identify the facial features that best differentiated individuals with and without FAS. Group 2 was used for cross validation.Results: In group 1, stepwise discriminant analysis identified three facial features (reduced palpebral fissure length/inner canthal distance ratio, smooth philtrum, and thin upper lip) as the cluster of features that differentiated individuals with and without FAS in groups 1 and 2 with 100% accuracy. Sensitivity and specificity were unaffected by race, gender, and age.Conclusions: The phenotypic case definition derived from photographs accurately distinguished between individuals with and without FAS, demonstrating the potential of this approach for developing screening, diagnostic, and surveillance tools. Further evaluation of the validity and generalizability of this method will be needed.