|
Description:
|
MDDB is an expert system for the diagnosis of dysmorphic syndromes.
Dysmorphic syndromes are rare in population. Approximately 1000 different diseases are known. Even experienced pediatrics have encountered most diseases only in literature. But the documented signs of a case are numerous (between 40 and 130). MDDB is an expert system, which is routinely applied, in a clinical setting. It enables the physician to establish a list of hypotheses based on signs entered in an independent patient-data acquisition process to document the case. Manipulating the list of hypotheses and the evaluation and analysis of hypotheses—including explanation based knowledge—are available. Knowledge acquisition is based on a semiautomatic method, which generates prototypes of formalized descriptions of dysmorphic syndromes. Moreover, a function has been built to obtain knowledge from case descriptions in literature and to compile it into prototypes.
MDDB is in routine use at the Kinderzentrum, Munich, Germany
Evaluation: MDDB was evaluated using 903 patients and 229 different prototypes of dysmorphic syndrom diseases, which have been collected over many years in a pediatric clinic at the University of Munich. The results showed a good sensitivity for the system, comparable decisions to the involved physicians, and more precise and enhanced knowledge of dysmorphic syndromes.
|