title: Microcomputer based differential diagnosis of dysmorphic syndromes.
abstract: Dysmorphic syndromes are characterized by associations of physical abnormalities depending in its diagnosis on the recognition of a particular pattern. Because of their multiplicity, the rarity of some of them, and the frequency of new reports, computerized data bases have proved useful as powerful tools assisting in the differential diagnosis. The role of artificial intelligence methods, in particular Expert Systems, as promising tools in helping physicians to perform a clinical diagnosis is underlined. Using a high level computer language presently used in the artificial intelligence field (Prolog), a microcomputer based system for the differential diagnosis of dysmorphic syndromes is described. Its capabilities and simplicity of use, derived from an efficient and attractive computer interface, are underlined. The need of performance assessment by evaluating its accuracy and usefulness before its introduction into genetic clinical practice is stressed. Finally, for the completeness of the knowledge base, the need of cooperation between international centers is emphasized.
authors.affiliation: Department of Neurology, Hospital de Egas Moniz, Lisbon, Portugal.
authors.forename: M L
authors.initials: ML
authors.lastname: Veloso
authors.forename: M J
authors.initials: MJ
authors.lastname: Feijóo
mesh_terms: D000013:Congenital Abnormalities / Q000175:diagnosis*; D003936:Diagnosis, Computer-Assisted; D005103:Expert Systems; D006801:Humans; D008838:Microcomputers; D013577:Syndrome