A South African mixed race lip/philtrum guide for diagnosis of fetal alcohol spectrum disorders.
A South African mixed race lip/philtrum guide for diagnosis of fetal alcohol spectrum disorders.
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DOI：
10.1002/ajmg.a.37023
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发表时间：
2015-04
期刊：
影响因子：
--
通讯作者：
May PA
中科院分区：
文献类型：
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作者：
Hoyme HE;Hoyme DB;Elliott AJ;Blankenship J;Kalberg WO;Buckley D;Abdul-Rahman O;Adam MP;Robinson LK;Manning M;Bezuidenhout H;Jones KL;May PA
怀孕期间母亲饮酒的不良影响表现为后代的生长限制、面部畸形和神经认知挑战。诊断的连续性被称为胎儿酒精谱系障碍（FASD）。短的睑裂，平滑的中唇和薄的上唇朱红色边界构成了FASD的三个主要面部特征。早期尝试定义平滑的中唇和薄薄的朱红色上唇边界是主观的。Astley及其同事介绍了一种基于北美高加索受试者的5分李克特量表唇部/中部指南，作为评估FASD面部畸形的客观工具。本高加索指南已纳入FASD的所有当前诊断方案。然而，广泛的国际临床经验表明，FASD在面部形态方面存在种族和民族差异。由于南非西开普省的开普有色人种（混合种族）人口中有相当数量的儿童患有FASD，我们为该人口制定了一份特定的唇部/中部指南。该导向器结合了45度的中心视图，可以增强中心高度的三维评估，这是单独使用正面视图无法实现的。该指南已被证明是一种更具体和敏感的工具，用于评估开普有色人种FASD的面部畸形，而不是使用先前的北美高加索人指南，并指出在评估疑似FASD的儿童时，种族和民族特定的畸形工具的效用。
The adverse effects of maternal alcohol use during pregnancy represent a spectrum of growth restriction, facial dysmorphology, and neurocognitive challenges in the offspring. The continuum of diagnoses is referred to as fetal alcohol spectrum disorders (FASD). Short palpebral fissures, a smooth philtrum, and a thin vermilion border of the upper lip comprise the three cardinal facial features of FASD. Early attempts to define a smooth philtrum and thin vermilion border of the upper lip were subjective. Astley and colleagues introduced a 5-point Likert-scaled lip/philtrum guide based on Caucasian North American subjects as an objective tool for the evaluation of the facial dysmorphology in FASD. This Caucasian guide has been incorporated into all current diagnostic schemes for FASD. However, broad international clinical experience with FASD indicates racial and ethnic differences with respect to the facial morphology. Because of the substantial number of children with FASD in South Africa among the Cape Coloured (mixed race) population in the Western Cape Province, we developed a specific lip/philtrum guide for that population. The guide incorporates a 45-degree view of the philtrum that enables an enhanced 3-dimensional evaluation of philtral height not possible with a frontal view alone. The guide has proven to be a more specific and sensitive tool for evaluation of the facial dysmorphology of FASD in the Cape Coloured population than the use of the previous North American Caucasian guide and points to the utility of racial and ethnic-specific dysmorphology tools in the evaluation of children with suspected FASD.