Skeletal Manifestations in Marfan Syndrome and Related Disorders of the Connective Tissue

Marfan syndrome (MFS) is a dominantly inherited disorder of the connective tissue with an estimated incidence of approximately 1 per 5,000 live births and cardinal manifestations in the cardiovascular, ocular and musculoskeletal systems. This chapter reviews the skeletal phenotypes of MFS and related disorders. Many of the skeletal abnormalities in MFS are either commonly found in the general population or present in related connective tissue disorders. Malformations of the appendicular skeleton, such as disproportionate long limbs (dolichostenomelia), are often the most evident manifestations in MFS. Congenital contractural arachnodactyly (CCA) is a rare dominantly inherited condition characterized by multiple joint contractures, arachnodactyly, dolichostenomelia, scoliosis, and osteopenia. The current view of MFS and related disorders is that phenotypic outcomes reflect the spatiotemporal responses of resident cells to dysregulated transforming growth factor-β (TGFβ) and/or bone morphogenetic protein (BMP) bioavailability rather than simply the impact of the mutations on TGFβ and/or BMP signaling.