Skeletal features of the Marfan syndrome: Diagnosis and management

The aims of the present study were to review the orthopaedic features and describe the management of the most common orthopaedic problems in Marfan patients. Sixteen patients with a dolichostenomelic habitus were evaluated clinically and radiologically and divided into three groups: group A consisted of patients with the Marfanoid habitus, group B of patients with forme fruste Marfan syndrome, and group C of definite Marfan patients. In all these patients scoliosis was the most frequent musculoskeletal manifestation, but knee and foot deformities also had a considerable incidence. As these features are evident in childhood and adolescence, early and accurate orthopaedic evaluation is necessary if progression is to be prevented or halted. A collaborative multi-disciplinary approach can help in the diagnosis and prevent the major life-threatening manifestations that are involved in this condition.