Ward R E, Jamison P L, Farkas L G
Department of Anthropology, Indiana University Purdue University Indianapolis, USA.
Am J Med Genet. 1998 Nov 16;80(3):232-40. doi: 10.1002/(sici)1096-8628(19981116)80:3<232::aid-ajmg11>3.0.co;2-0.
We propose a numerical means of increasing the objectivity of describing, characterizing, and evaluating craniofacial morphology, including dysmorphology. A craniofacial variability index (CVI) can be created for an individual by obtaining a series of anthropometric measurements of the head and face, converting each measurement value to a standardized z-score, and then calculating the standard deviation for the whole set of these z-score values. This value is lowest for those faces in which all of the z-scores are in the same direction and of relatively the same magnitude and highest for faces with pronounced difference in direction and size of the individual z-scores. The CVI has a range of values with an approximately normal distribution in a reference population of 1,312 individuals. Examination of a small sample of individuals with known craniofacial syndromes indicates that the CVI in such cases consistently falls outside of the normal range of the index, and its value is highest in individuals with the greatest subjective degree of facial involvement. Finally, the CVI is robust: age, sex, size of the individual, and changes in the number of variables used in its calculation have little impact on its distribution. When used in conjunction with traditional clinical assessment, the CVI has a number of potential clinical applications including initial diagnostic screening, demonstrating age-related changes in postnatal development of patients with facial syndromes, and pre- and post-surgical assessments of individuals with craniofacial anomalies.
我们提出了一种数值方法，以提高描述、表征和评估颅面形态（包括畸形形态）的客观性。通过对头面部进行一系列人体测量，将每个测量值转换为标准化的z分数，然后计算这些z分数值的整个集合的标准差，可以为个体创建一个颅面变异指数（CVI）。对于所有z分数方向相同且大小相对相同的面部，该值最低；对于个体z分数在方向和大小上有明显差异的面部，该值最高。在1312名个体的参考人群中，CVI的值范围呈近似正态分布。对一小部分已知颅面综合征个体的检查表明，在这些情况下，CVI始终落在该指数的正常范围之外，并且在面部受累主观程度最高的个体中其值最高。最后，CVI具有稳健性：年龄、性别、个体大小以及计算中使用的变量数量的变化对其分布影响很小。当与传统临床评估结合使用时，CVI具有许多潜在的临床应用，包括初步诊断筛查、展示面部综合征患者出生后发育中与年龄相关的变化，以及对颅面异常个体进行手术前后评估。
