Ascertainment and severity of Marfan syndrome in a Scottish population

J R Gray, A B Bridges, M J Faed, T Pringle, P Baines, J Dean, M Boxer, J R Gray, A B Bridges, M J Faed, T Pringle, P Baines, J Dean, M Boxer

Abstract

This study in north east Scotland has shown that Marfan syndrome has a minimal birth incidence of 1:9802 live births, a minimal prevalence of 1:14217, and that 8/30 (26.7%) of cases in our series are new mutations. The calculated mutation rate is 15 +/- 6.7 x 10(-6) and there is evidence of reduced reproductive fitness.

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