Bone Abstracts

Objectives: Marfan syndrome (MFS) is a connective disorder caused by mutations in FBN1 gene which encodes the extracellular matrix protein fibrillin 1. Pathogenesis relies on a dysregulation of activated TGF-β. Cardiovascular, ocular and skeletal systems are involved with a variable expressivity. Findings evolve with age, making the diagnosis in children more difficult. Skeletal involvement includes disproportionate long bone overgrowth, scoliosis, and chest deformity. Al...