Repeated-measure Validation of Craniofacial Metrics from Three-dimensional Surface Scans: Application to Medical Genetics

摘要

Traditionally, medical geneticists have employed visual inspection (anthroposcopy) to clinically evaluate dysmorphology. In the last 20 years, there has been an increasing trend towards quantitative assessment to render diagnosis of anomalies more objective and reliable. These methods have focused on direct anthropometry, using a combination of classical physical anthropology tools and new instruments tailor-made to describe craniofacial morphometry. These methods are painstaking and require that the patient remain still for extended periods of time. Most recently, semiautomated techniques (e.g., structured light scanning) have been developed to capture the geometry of the face in a matter of seconds. In this paper, we establish that direct anthropometry and structured light scanning yield reliable measurements, with remarkably high levels of inter-rater and intra-rater reliability, as well as validity (contrasting the two methods).