Clarren S K, Sampson P D, Larsen J, Donnell D J, Barr H M, Bookstein F L, Martin D C, Streissguth A P
Am J Med Genet. 1987 Mar;26(3):651-66. doi: 10.1002/ajmg.1320260321.
This study was designed to assess the limits of alcohol-related facial dysmorphogenesis. Standard full face and lateral facial photographs were obtained on 21 7-year-old children who had been exposed gestationally to known, heavy quantities of ethanol. Only two of these children had been previously considered to have definite fetal alcohol syndrome (FAS). Similar photographs of 21 other 7-year-old children with negligible gestational ethanol exposure were obtained for control purposes. Copies of the 42 photographs were given to each of seven expert clinicians who were asked to select any child with an FAS-related facial appearance. Six of seven judges were accurate in identifying children with high levels of alcohol exposure as having a fetal alcohol-affected face. A set of homologous points on the photographs were then digitized and analyzed by newly developed morphometric methods to determine the facial shape characteristics that distinguish the selected photographs of highly exposed children. The analysis confirmed that the judges specifically identified children with facial changes consistent with those previously published as defining the face of the FAS: short palpebral fissures, a relatively long and flat midface, and a retrusive mandible. This methodology may be useful in more accurately delineating the facial phenotype in other conditions diagnosed primarily on the basis of subjective clinical criteria.
本研究旨在评估与酒精相关的面部畸形发生的限度。对21名在孕期接触过已知大量乙醇的7岁儿童拍摄了标准的全脸和侧面面部照片。这些儿童中只有两名之前被认为患有明确的胎儿酒精综合征(FAS)。为作对照,还为另外21名孕期乙醇接触可忽略不计的7岁儿童拍摄了类似照片。将这42张照片的副本分发给七位专家临床医生,要求他们挑选出任何具有FAS相关面部外观的儿童。七位评判员中有六位准确地识别出乙醇暴露水平高的儿童具有受胎儿酒精影响的面容。然后通过新开发的形态测量方法对照片上的一组同源点进行数字化处理和分析,以确定区分高度暴露儿童所选照片的面部形状特征。分析证实,评判员们明确识别出面部有变化的儿童,这些变化与之前发表的定义FAS面容的特征一致:睑裂短、中面部相对长且扁平、下颌后缩。这种方法可能有助于更准确地描绘主要根据主观临床标准诊断的其他病症中的面部表型。