Developing standardized graphic libraries for anatomy: A focus on human craniofacial anatomy and phenotypes

项目摘要 关于解剖学概念和患者特定解剖学的交流是医学的基础。 头部和面部的解剖学（颅面解剖学）是复杂的，面部形态在 在人群中。口面裂是最常见的先天性畸形之一 显示一系列严重程度，并可在多个站点进行预设。 临床上需要快速准确地交流颅面解剖学知识 实践、医学教育以及在研究中使用临床数据时。为了应对这一挑战，我们 建议创建简单的，标准化的颅面解剖和表型图形。我们的收藏 图形或“图形库”将作为文本表示的补充， 设计用于临床、研究和教育软件应用程序。我们的方法来 设计图形基于四个要求：图形是可组合的，可扩展的， 可识别，并使用可缩放矢量图形（SVG）创建。 我们将首先为成人和发育解剖学开发图形，然后为表型变异开发图形 和畸形。我们还将为两个基于Web的工具开发原型，其中一个将 图形到人类表型本体和其他用于记录颅面表型 和畸形。通过提供一种新的解剖学交流模式， 图形库将成为下一代软件应用程序的关键组件， 临床实践、研究和教育。

Project summary Communicating about anatomical concepts and patient-specific anatomy is fundamental to medicine. Anatomy of the head and face (craniofacial anatomy) is complex, and facial morphology varies within and among populations. Orofacial clefts—which are among the most common congenital anomalies— display a range of severities and may be preset at more than one site. There is a need to communicate rapidly and accurately about craniofacial anatomy in clinical practice, medical education, and when using clinical data in research. To address this challenge, we propose to create simple, standardized graphics of craniofacial anatomy and phenotypes. Our collections of graphics, or “graphic libraries”, will serve as complements to textual representations and will be designed for use within clinical, research, and educational software applications. Our approach to designing the graphics is based on four requirements: that the graphics be composable, extensible, identifiable, and created using scalable vector graphics (SVGs). We will first develop graphics for adult and developmental anatomy, then for phenotype variations and malformations. We will also develop prototypes for two web-based tools—one that incorporates graphics into the Human Phenotype Ontology and the other for documenting craniofacial phenotypes and malformations in clinical settings. By offering a new paradigm for communicating about anatomy, our graphic libraries will become crucial components of the next generation of software applications for clinical practice, research, and education.