Marfan syndrome: orthopedic and genetic review

Marfan syndrome is an autosomal dominant disorder of connective tissue that affects the cardiac, eye, and skeletal systems. More than 135 mutations have been identified in the fibrillin-1 gene, localized on chromosome 15q21.1 [corrected] and responsible for the clinical manifestations of Marfan syndrome. The major orthopedic manifestations of Marfan syndrome include scoliosis, chest wall deformity, dural ectasia, joint hypermobility, and acetabular protrusion. In addition, decreased bone mineral density has been reported in patients with Marfan syndrome. This review summarizes recent developments in the genetic and orthopedic aspects of Marfan syndrome. Increased practitioner awareness of the clinical features associated with Marfan syndrome may facilitate earlier diagnosis and optimize patient treatment.