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Ehlers-Danios syndromes and Marfan syndrome

Bert Callewaert (UGent) , Fransiska Malfait (UGent) , Bart Loeys (UGent) and Anne De Paepe (UGent)
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Abstract
Ehlers-Danlos syndromes (EDS) and Marfan syndrome (MFS) are multisystemic disorders that primarily affect the soft connective tissues. Both disorders have benefited from recent advances in clinical and molecular characterization, allowing improvements in clinical diagnosis and management. EDS are a heterogeneous group of conditions characterized by skin hyperextensibility, atrophic scarring, joint hypermobility and generalized tissue fragility. The current classification proposes six subtypes based on clinical, biochemical and molecular characteristics. However, examples of unclassified variants and 'overlap phenotypes' are becoming more common. Mutations in genes encoding fibrillar collagens or collagen-modifying enzymes have been identified in most forms of EDS, including the classic and vascular subtypes (collagen type V and III, respectively), and the rare arthrochalasis, kyphoscoliosis and dermatosparaxis variants (type I collagen defects). To date, the genetic background of the hypermobility type of EDS remains unclear, although some new insights have been gained recently. MFS is an autosomal-dominant disorder that affects the cardiovascular, ocular and skeletal system with aortic root dilation/dissection, ectopia lentis and bone overgrowth, respectively. Advances in therapeutic, mainly surgical, techniques have improved median survival significantly, yet severe morbidity and a substantial risk for premature mortality remain associated. The disorder is caused by mutations in the FBN1 gene, encoding the microfibrillar protein fibrillin-1. Recently, new insights in the pathogenesis changed the prevailing concept of this type I.
Keywords
Ehlers-Danlos syndromes, Marfan syndrome, clinical features, molecular pathogenesis, differential diagnosis, management, CONGENITAL MUSCULAR-DYSTROPHY, THORACIC AORTIC-ANEURYSMS, WEILL-MARCHESANI-SYNDROME, DANLOS-SYNDROME, TARGETED DISRUPTION, DURAL ECTASIA, SKIN FRAGILITY, PULMONARY-FUNCTION, MISSENSE MUTATION, MOLECULAR-MECHANISM

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Citation

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MLA
Callewaert, Bert, Fransiska Malfait, Bart Loeys, et al. “Ehlers-Danios Syndromes and Marfan Syndrome.” BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY 22.1 (2008): 165–189. Print.
APA
Callewaert, B., Malfait, F., Loeys, B., & De Paepe, A. (2008). Ehlers-Danios syndromes and Marfan syndrome. BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY, 22(1), 165–189.
Chicago author-date
Callewaert, Bert, Fransiska Malfait, Bart Loeys, and Anne De Paepe. 2008. “Ehlers-Danios Syndromes and Marfan Syndrome.” Best Practice & Research in Clinical Rheumatology 22 (1): 165–189.
Chicago author-date (all authors)
Callewaert, Bert, Fransiska Malfait, Bart Loeys, and Anne De Paepe. 2008. “Ehlers-Danios Syndromes and Marfan Syndrome.” Best Practice & Research in Clinical Rheumatology 22 (1): 165–189.
Vancouver
1.
Callewaert B, Malfait F, Loeys B, De Paepe A. Ehlers-Danios syndromes and Marfan syndrome. BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY. 2008;22(1):165–89.
IEEE
[1]
B. Callewaert, F. Malfait, B. Loeys, and A. De Paepe, “Ehlers-Danios syndromes and Marfan syndrome,” BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY, vol. 22, no. 1, pp. 165–189, 2008.
@article{432358,
  abstract     = {Ehlers-Danlos syndromes (EDS) and Marfan syndrome (MFS) are multisystemic disorders that primarily affect the soft connective tissues. Both disorders have benefited from recent advances in clinical and molecular characterization, allowing improvements in clinical diagnosis and management. EDS are a heterogeneous group of conditions characterized by skin hyperextensibility, atrophic scarring, joint hypermobility and generalized tissue fragility. The current classification proposes six subtypes based on clinical, biochemical and molecular characteristics. However, examples of unclassified variants and 'overlap phenotypes' are becoming more common. Mutations in genes encoding fibrillar collagens or collagen-modifying enzymes have been identified in most forms of EDS, including the classic and vascular subtypes (collagen type V and III, respectively), and the rare arthrochalasis, kyphoscoliosis and dermatosparaxis variants (type I collagen defects). To date, the genetic background of the hypermobility type of EDS remains unclear, although some new insights have been gained recently. 
MFS is an autosomal-dominant disorder that affects the cardiovascular, ocular and skeletal system with aortic root dilation/dissection, ectopia lentis and bone overgrowth, respectively. Advances in therapeutic, mainly surgical, techniques have improved median survival significantly, yet severe morbidity and a substantial risk for premature mortality remain associated. The disorder is caused by mutations in the FBN1 gene, encoding the microfibrillar protein fibrillin-1. Recently, new insights in the pathogenesis changed the prevailing concept of this type I.},
  author       = {Callewaert, Bert and Malfait, Fransiska and Loeys, Bart and De Paepe, Anne},
  issn         = {1521-6942},
  journal      = {BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY},
  keywords     = {Ehlers-Danlos syndromes,Marfan syndrome,clinical features,molecular pathogenesis,differential diagnosis,management,CONGENITAL MUSCULAR-DYSTROPHY,THORACIC AORTIC-ANEURYSMS,WEILL-MARCHESANI-SYNDROME,DANLOS-SYNDROME,TARGETED DISRUPTION,DURAL ECTASIA,SKIN FRAGILITY,PULMONARY-FUNCTION,MISSENSE MUTATION,MOLECULAR-MECHANISM},
  language     = {eng},
  number       = {1},
  pages        = {165--189},
  title        = {Ehlers-Danios syndromes and Marfan syndrome},
  url          = {http://dx.doi.org/10.1016/j.berh.2007.12.005},
  volume       = {22},
  year         = {2008},
}

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