Carey John C, Allanson Judith E, Hennekam Raoul C M, Biesecker Leslie G
1Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.
Hum Mutat. 2012 May;33(5):781-6. doi: 10.1002/humu.22053. Epub 2012 Apr 13.
In 2005, the authors of this article formed an international working group to develop standardized definitions and terms to describe the physical variations used in human phenotypic analyses. This project, which came to be known as the Elements of Morphology, resulted in six articles proposing consensus definitions for almost 400 phenotypic variations of the head and face; periorbital region; ear, nose, and philtrum; mouth and lips; and hands and feet. Every variation was accompanied by a representative figure depicting the feature. The articles were published in the January 2009 issue of the American Journal of Medical Genetics Part A and are available for free access on both the Journal's Web page and a National Institutes of Health-based site. The publication of the Elements' definitions has spawned an ongoing dialogue about the proposed terms to describe the phenotype. The working group considered the six articles as only the first step in the process, and four more articles on proposed terminology for the trunk, genital region, skin, and remainder of the limb terms are in preparation. The secondary outcome of the Elements project is the provision of a working methodology for the establishment of standardized terminology and definitions for phenotype analysis in general.
2005年，本文作者组建了一个国际工作组，旨在制定标准化定义和术语，以描述人类表型分析中所使用的身体变异。这个后来被称为“形态学要素”的项目，产出了六篇文章，为头部和面部、眶周区域、耳、鼻和人中、口和唇以及手和足的近400种表型变异提出了共识定义。每种变异都配有一幅描绘该特征的代表性图片。这些文章发表在《美国医学遗传学杂志A辑》2009年1月那一期，可在该杂志网页以及一个美国国立卫生研究院的网站上免费获取。“形态学要素”定义的发表引发了一场关于所提议的用于描述表型的术语的持续讨论。该工作组认为这六篇文章只是这个过程的第一步，另外四篇关于躯干、生殖器区域、皮肤以及肢体其余部分术语的提议术语的文章正在筹备中。“形态学要素”项目的第二个成果是总体上为建立用于表型分析的标准化术语和定义提供了一种可行的方法。
