Quality assurance in the clinical diagnosis of Marfan Syndrome based on new developed inheritance pattern.

Abstract Background: Marfan syndrome (MFS) is a rare disease that induces a connective tissue disorder. The variability of its manifestations makes difficult an unequivocal diagnosis.Results: In this paper, we propose a method for the analysis of genetic aggregation and segregation based on Mendel’s Laws to identify the inheritance pattern for a single-gene disease. The probabilistic method is combined with a classical Uniformly Most Powerful (U.M.P.) test for comparing composite hypothesis against a composite hypothesis, in order to establish whether a disease is caused by a single autosomal dominant gene or by a recessive one. A random decision rule could be used for small samples.Conclusions: This methodology was tested to evaluate the quality assurance of the clinical diagnosis in Marfan Syndrome that enables a more reliable decision combining a clinical criteria and a mathematical model.