Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Department of Pediatrics, University of Washington School of Medicine, Washington, USA.
Am J Med Genet A. 2022 Nov;188(11):3191-3228. doi: 10.1002/ajmg.a.62965. Epub 2022 Sep 5.
An international group of clinicians working in the field of dysmorphology has initiated the standardization of terms used to describe human morphology. The goals are to standardize these terms and reach consensus regarding their definitions. In this way, we will increase the utility of descriptions of the human phenotype and facilitate reliable comparisons of findings among patients. Additional discussions with other workers in dysmorphology and related fields, such as developmental biology and molecular genetics, will become more precise. Here we introduce the anatomy of the trunk and limbs and define and illustrate the terms that describe the major characteristics of these body regions.
一个国际临床医生小组在畸形学领域开展工作,已经启动了描述人类形态学的术语标准化工作。目标是标准化这些术语并就其定义达成共识。通过这种方式,我们将提高人类表型描述的实用性,并促进患者之间发现结果的可靠比较。与畸形学和相关领域(如发育生物学和分子遗传学)的其他工作人员进行更多的讨论也将变得更加精确。在这里,我们介绍了躯干和四肢的解剖结构,并定义和说明了描述这些身体区域主要特征的术语。