Allanson Judith E, Biesecker Leslie G, Carey John C, Hennekam Raoul C M
Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
Am J Med Genet A. 2009 Jan;149A(1):2-5. doi: 10.1002/ajmg.a.32601.
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. Discussions with other workers in dysmorphology and related fields, such as developmental biology and molecular genetics, will become more precise. Here we describe the general background of the project and the various issues we have tried to take into account in defining the terms.
一个从事畸形学领域工作的国际临床医生小组已启动用于描述人类形态学术语的标准化工作。目标是使这些术语标准化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,并促进患者间研究结果的可靠比较。与畸形学及相关领域(如发育生物学和分子遗传学)的其他研究人员的讨论将变得更加精确。在此,我们描述该项目的总体背景以及在定义术语时试图考虑的各种问题。