Diagnostics of malformation syndromes using an available computer program.

Abstract

Increased attention to the malformation syndromatology is motivated by the importance of accurate diagnosis and its necessity in genetic counselling. Given the great number of malformation syndromes, it is logical to make use of computers in their ability perform differential diagnostics. The aim of our present examinations was to assess the benefit that an experienced pediatrician can obtain from an available program. The "Syndrome Program" of R. Winter and M. Baraitser was applied. Using coded symptoms, the computer produces a short list of possible diagnoses, which can then be assessed by the user. References and syndrome features can be recalled and compared with those in undiagnosed cases. The diagnoses of 100 different syndrome features can be recalled and compared with those in undiagnosed cases. The diagnoses of 100 different syndromes were controlled. The method applied yielded very good results. The computer diagnosis of malformation syndromes is a helpful way of supplying information. It may promote the standardization of diagnostic practice, international cooperation and epidemiologic studies in different regions.