FBN1 and Disproportionate tall stature: R1170H FBN1 variant has been reported in a family with dolichostenomelia and arachnodactily [40] and G1796E in a family with kyphoscoliosis and radiological abnormalities of the spine, an unusual autosomal dominant condition with variable and progressive severity, without ocular or cardiac manifestations of MFS [41].