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

Emilio Arteaga-Solis, Francesco Ramirez

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

2 Scopus citations


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.

Original languageEnglish
Title of host publicationPrimer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism
Subtitle of host publicationEighth Edition
Number of pages8
ISBN (Electronic)9781118453926
ISBN (Print)9781118453889
StatePublished - 19 Jul 2013


  • Bone morphogenetic protein (BMP)
  • Congenital contractural arachnodactyly (CCA)
  • Connective tissue
  • Marfan syndrome (MFS)
  • Skeletal manifestations
  • Transforming growth factor'sβ (TGFβ)


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