PC-based system for classifying dysmorphic syndromes in children.

Abstract A system is described running on any IBM-compatible personal computer operating under MS-DOS which permits an expert in pediatric dysmorphology to formulate dysmorphic features and syndromes in a knowledge base, and a user to enter, analyze, store and retrieve case data. For each case, the system calculates the Bayesian probability of the presence of each syndrome in the knowledge base and lists as the differential diagnosis those syndrome whose probability exceeds 90%. For explanatory purposes, the syndrome definitions can be displayed and compared to the case data. The system has been tested and used in the Department of Clinical Genetics at Uppsala University Hospital. The current scope of the system's knowledge was found to be of valuable assistance to the pediatric practitioner but it must be expanded and refined for use by a clinical geneticist. This study has shown the validity of the system's design and structure and further work is under way to extend its knowledge capability.