Meaney F J, Farrer L A
Am J Med Genet. 1986 Oct;25(2):343-59. doi: 10.1002/ajmg.1320250221.
Anthropometry has become an important tool in the study of genetic conditions, particularly as a diagnostic aid for the clinical geneticist. However, many practicing physicians do not do anthropometry of patients for several reasons, such as: appropriate measurements in a given situation are unknown; normative reference data are unavailable; or analysis and interpretation of the data are confusing. In this review we present an annotated compilation of informative measurements for hereditary and congenital disorders and a guide to normative anthropometric data of use in evaluation and diagnosis of such disorders. Further development of multivariate approaches will enhance the application of anthropometry as a means of identifying and classifying a syndrome and documenting the natural history of many disorders. Continued cooperation among physicians, geneticists, and anthropologists for the collection and assessment of patient and normative data is essential if these goals are to be realized.
人体测量学已成为研究遗传疾病的重要工具，尤其是作为临床遗传学家的诊断辅助手段。然而，许多执业医师不进行患者的人体测量，原因有多种，例如：在特定情况下合适的测量方法未知；缺乏标准参考数据；或者数据的分析和解释令人困惑。在本综述中，我们提供了一份关于遗传性和先天性疾病信息性测量的注释汇编，以及一份用于此类疾病评估和诊断的标准人体测量数据指南。多变量方法的进一步发展将加强人体测量学作为识别和分类综合征以及记录许多疾病自然史的手段的应用。如果要实现这些目标，医生、遗传学家和人类学家之间持续合作以收集和评估患者及标准数据至关重要。
