Fibrillinopathies: Skeletal manifestations of marfan syndrome and marfan-related conditions

Gary S. Gottesman, Michael P. Whyte

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


The fibrillinopathies are connective tissue disorders that share a constellation of features and differ by specific clinical and molecular findings. This chapter discusses the phenotype, molecular basis, pathogenesis, and treatment of the most prevalent types while emphasizing their skeletal manifestations. Marfan syndrome (MFS) affects at least 1 in 5000 people and is an autosomal dominant (AD) disorder caused by defects in fibrillin-1 leading to pleiotropic complications primarily involving the cardiovascular, musculoskeletal, integumentary, and visual systems. Congenital contractural arachnodactyly is a rare AD disorder delineated from MFS by crumpled ear helices, multiple congenital flexion contractures, and typically absence of dolichocephaly, myopia, ectopia lentis, and aortic enlargement. Homocystinuria is an inborn error of metabolism that deserves mention because of phenotypic similarities with MFS. The pleiotropic nature of MFS and the MFS-related disorders necessitates multidisciplinary management including regular surveillance.

Original languageEnglish
Title of host publicationPrimer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism
Number of pages8
ISBN (Electronic)9781119266594
ISBN (Print)9781119266563
StatePublished - Jan 1 2018


  • Autosomal dominan disorder
  • Congenital contractural arachnodactyly
  • Fibrillinopathies
  • Homocystinuria
  • Skeletal manifestations

Fingerprint Dive into the research topics of 'Fibrillinopathies: Skeletal manifestations of marfan syndrome and marfan-related conditions'. Together they form a unique fingerprint.

Cite this