Marfan syndrome: a diagnostic dilemma

During a 17‐year period (1971–1988), the Marfan syndrome was diagnosed in 66 patients seen through the Department of Human Genetics, Medical School, University of Cape Town. Following reappraisal and application of the Pyeritz criteria, this diagnosis was confirmed in 33. Of the others, 17 with tall stature and a Marfanoid habitus had insufficient additional manifestations for firm diagnosis and were eliminated from the series. Sixteen had Marfanoid habitus, tall stature, arachnodactyly and other abnormalities which might have indicated the presence of a different syndrome. The difficulty in making a clinical diagnosis of the Marfan syndrome is stressed and emphasizes the need for a biomolecular marker.