Although the FBN1 variant in our patient has been reported and considered as a pathogenic variant [17], no other features of Marfan Syndrome such as dolichostenomelia, arachnodactyly, joint laxity, velvety skin, ectopia lentis and cardiovascular manifestations were identified. The gene discussed is FBN1; the disease is congenital contractural arachnodactyly.