Introduction

Abstract

Marfan syndrome is generally thought to be rare, but clinicians who have seen how the gene expression can shade into normality in affected members of a family, suspect that its overall frequency could be underestimated, as a recent collaborative publication states [1]. The fact that the syndrome presents in many different ways may also hinder its recognition. Marfan syndrome patients may first be referred to any one of a number of specialists. Each doctor is likely to be familiar with a particular aspect of the syndrome, but less familiar with its other features. The aim of this guide is to pool the knowledge available from different experienced specialists, and to make it available to the many clinicians likely to encounter a patient with this condition.