A case-based assistant for diagnosis and analysis of dysmorphic syndromes

This report describes the development of a case-based reasoning (CBR) system designed to provide assistance to specialists within the dysmorphology field. An interactive CBR model is described which aids medical experts in arriving at potential diagnoses, and has an explicit learning goal in order to provide further analytical assessment of syndrome categories. The complexity of this real world domain has highlighted a number of important empirical issues with respect to CBR techniques, which are discussed along with the system design.