Abstract
Marfan Syndrome (MFS) is an autosomal dominant genetic condition, with complete penetrance, inter and intra-family clinical variability. It has an incidence of 1 in approximately 5,000 individuals, around 25% of these cases are sporadic. The systems most affected by the syndrome are ocular, cardiovascular and skeletal. MFS is caused by pathogenic variants in the FBN1 gene, which encodes t…