Tudose A.

Marfan syndrome is an autosomal dominant monogenic disease, due to a mutation in fibrillin 1 gene ( FBN1 ), located on chromosome 15q21.1 . Fibrillin 1 mutation causes a hereditary systemic connective tissue disorder that occurs with a frequency of 1 in every 5000 newborns and that affects different tissues and organs with high clinic variability. FBN1 mutation generates a broad phenotypic spectrum, clinical diagnosis relying on the presence of abnormalities in three major systems : the eye ( myopia, sublux