Developing 3D Craniofacial Morphometry Data and Tools to Transform Dysmorphology

开发 3D 颅面形态测量数据和工具来改变形态异常

• 批准号: 9258432
• 负责人: Benedikt Hallgrimsson
• 金额: $ 64.88万
• 依托单位: UNIVERSITY OF COLORADO DENVER
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-05-16 至 2019-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9258432
• 关键词: Anatomy; Arts; Characteristics; Clinic; Clinical; Clinical Medicine; Complex; Computer software; Data; Diagnosis; Diagnostic; Dimensions; Discrimination; Dysmorphology; Face; FaceBase; Genetic; Genetic screening method; Goals; Human; Image; Individual; Libraries; Measures; Medical; Medical Genetics; Methods; Modeling; Morphology; National Institute of Dental and Craniofacial Research; Patients; Pediatrics; Phenotype; Research; Research Personnel; Resources; Scanning; Science; Shapes; Structural Congenital Anomalies; Surface; Syndrome; System; Three-dimensional analysis; Time; Variant; Work; analytical method; analytical tool; base; clinical Diagnosis; clinical practice; craniofacial; exome sequencing; genetic disorder diagnosis; genome sequencing; impression; improved; morphometry; novel strategies; orofacial; prototype; public health relevance; tool

DESCRIPTION (provided by applicant): Dysmorphology is the branch of pediatrics and clinical genetics concerned with structural birth defects and delineation of syndromes. More than 1500 syndromes that include orofacial dysmorphia have been described. Today, dysmorphology remains largely descriptive, with diagnoses based on subjective or semi-quantitative clinical impressions of facial and other anatomic features. Over the past decade, dramatic technological advances in imaging, quantification, and analysis of variation in complex three-dimensional (3D) shape have revolutionized the assessment of morphologic variation, permitting robust definition of quantitative morphometric phenotypes that can distinguish patients from controls in a variety of syndromes. The goal of this application is to develop systems that will enable diagnostic application of craniofacial 3D morphometrics in clinical practice. We aim to define specific quantitative measures that characterize the aberrant facial shapes in a large number of human dysmorphic syndromes. Specifically, we aim to build a broad and deep 3D morphometric facial scan "library" of defined craniofacial dysmorphic syndromes, a resource that can be shared with approved investigators for research purposes via the NIDCR FaceBase Hub; to develop 3D geometric morphometric (GM) and dense surface modeling (DSM) analytical tools to systematically analyze and distinguish dysmorphic syndromes from unaffected individuals and from each other; and finally to develop a functional, automated, prototype clinical tool that is capable of simultaneously distinguishing a large number of syndromes, and that thereby can assist real-time diagnosis of syndromes in the clinical setting. We anticipate that 3D photomorphometric "deep-phenotyping", in conjunction with the rapid advent of exome and genome sequencing in clinical medicine, will transform dysmorphology from a clinical art into a medical science.

描述（由申请人提供）：形态异常学是儿科和临床遗传学的一个分支，涉及结构性出生缺陷和综合征的描述。包括口面部畸形在内的 1500 多种综合征已被描述。如今，畸形学在很大程度上仍然是描述性的，诊断基于面部和其他解剖特征的主观或半定量临床印象。在过去的十年中，复杂三维 (3D) 形状变异的成像、量化和分析方面的巨大技术进步彻底改变了形态变异的评估，允许对定量形态测量表型进行稳健的定义，从而将各种综合征的患者与对照区分开来。该应用的目标是开发能够在临床实践中进行颅面 3D 形态测量诊断应用的系统。我们的目标是定义具体的定量措施来表征大量人类畸形综合症中的异常面部形状。具体来说，我们的目标是建立一个广泛而深入的 3D 形态测量面部扫描“库”，用于定义颅面畸形综合征，该资源可以通过 NIDCR FaceBase Hub 与批准的研究人员共享用于研究目的；开发 3D 几何形态测量 (GM) 和致密表面建模 (DSM) 分析工具，系统分析和区分未受影响个体和彼此之间的畸形综合征；最终开发出一种功能性的、自动化的、原型的临床工具，能够同时区分大量的综合症，从而可以帮助临床环境中综合症的实时诊断。我们预计，3D 光形态测量“深度表型分析”，加上外显子组和基因组测序在临床医学中的快速出现，将把畸形学从临床艺术转变为医学科学。