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Volumn 5, Issue 6, 2005, Pages 301-314

The clinical presentation of Ehlers-Danlos syndrome

Author keywords

Collagen disorders; Connective tissue disorders; Ehlers Danlos syndrome; Infant; Joint hypermobility; Newborn; Physical assessment; Skin disorders; Skin hyperextensibility

Indexed keywords

CASE REPORT; DIFFERENTIAL DIAGNOSIS; DIRECTORY; EHLERS DANLOS SYNDROME; GENETICS; HUMAN; INFORMATION SERVICE; MALE; MULTIPLE MALFORMATION SYNDROME; NURSING; PATHOPHYSIOLOGY; PROGNOSIS; REVIEW;

EID: 28844492265     PISSN: 15360903     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.adnc.2005.09.006     Document Type: Review
Times cited : (41)

References (48)
  • 2
    • 1442334283 scopus 로고    scopus 로고
    • Ehlers-Danlos syndrome, classical type: Case management
    • S.E. Whitelaw Ehlers-Danlos syndrome, classical type case management Pediatr Nurs 29 2003 423 426
    • (2003) Pediatr Nurs , vol.29 , pp. 423-426
    • Whitelaw, S.E.1
  • 3
    • 28844439786 scopus 로고    scopus 로고
    • Ehlers-Danlos National Foundation Website. Los Angeles, Calif: Ehlers Danlos National Foundation.
    • Ehlers-Danlos National Foundation Website. What is Ehlers-Danlos syndrome? Los Angeles, Calif: Ehlers Danlos National Foundation. Available at: http://www.ednf.org/whatiseds.html. Accessed November 18, 2004.
    • What Is Ehlers-Danlos Syndrome?
  • 5
    • 28844507224 scopus 로고    scopus 로고
    • http://www.emedicine.com/derm/topic696.htm#section∼ author_information.
    • E. Ceccolini, R. Schwartz Ehlers-Danlos syndrome. (online article) 2005 Omaha, Neb: www.eMedicine.com. Updated February 10. Available at: http://www.emedicine.com/derm/topic696.htm#section∼author_information. Accessed June 23, 2005
    • (2005) Ehlers-Danlos Syndrome. (Online Article)
    • Ceccolini, E.1    Schwartz, R.2
  • 6
    • 28844493160 scopus 로고    scopus 로고
    • Ehlers-Danlos Support Group Website. Aldershot, UK: Ehlers-Danlos Support Group.
    • Ehlers-Danlos Support Group Website. Ehlers-Danlos syndrome. Aldershot, UK: Ehlers-Danlos Support Group. Available at: http://www.ehlers-danlos.org/ Info%20Sheets/infoEDS.htm. Accessed November 18, 2004.
    • Ehlers-Danlos Syndrome
  • 7
    • 28844498511 scopus 로고    scopus 로고
    • National Library of Medicine Bethesda, Md Updated July 1.
    • Genetics Home Reference (online consumer guide). Ehlers-Danlos syndrome 2005 National Library of Medicine Bethesda, Md Updated July 1. Available at: http://ghr.nlm.nih.gov/condition=ehlersdanlossyndrome. Accessed December 14, 2004
    • (2005) Genetics Home Reference (Online Consumer Guide). Ehlers-Danlos Syndrome
  • 8
    • 28844493160 scopus 로고    scopus 로고
    • Oslo, Norway: Who Named It? (biographical dictionary of medical eponyms) Ehlers-Danlos syndrome.
    • Enerson OD. Ehlers-Danlos syndrome. Oslo, Norway: Who Named It? (biographical dictionary of medical eponyms) Ehlers-Danlos syndrome. Available at: http://www.whonamedit.com/synd.cfm/2017.html. Accessed December 12, 2004.
    • Ehlers-Danlos Syndrome
    • Enerson, O.D.1
  • 9
    • 4243254878 scopus 로고    scopus 로고
    • Selected hereditary diseases
    • L. Eichenfield I. Frieden N. Esterly WB Saunders Philadelphia, Pa
    • V. Sybert Selected hereditary diseases L. Eichenfield I. Frieden N. Esterly Textbook of Neonatal Dermatology 2001 WB Saunders Philadelphia, Pa 458 459
    • (2001) Textbook of Neonatal Dermatology , pp. 458-459
    • Sybert, V.1
  • 10
    • 84870061020 scopus 로고    scopus 로고
    • Ehlers-Danlos syndrome, classic type (online article)
    • http://www.genetests.org/servlet/access?db=geneclinics&site= gt&id=8888890&key=urbQYAIvOehP3&gry=&fcn=y&fw= GosP&filename=/profiles/eds/index.html.
    • R. Wenstrup, A. De Paepe Ehlers-Danlos syndrome, classic type (online article) GeneReviews 2003 Seattle, Wash: www.genetests.org. October 29. Available at: http://www.genetests.org/servlet/access?db=geneclinics&site= gt&id=8888890&key=urbQYAIvOehP3&gry=&fcn=y&fw= GosP&filename=/profiles/eds/index.html. Accessed February 3, 2005
    • (2003) GeneReviews
    • Wenstrup, R.1    De Paepe, A.2
  • 12
    • 28844498511 scopus 로고    scopus 로고
    • National Library of Medicine Bethesda, Md Updated July 1.
    • Genetics Home Reference (online consumer guide). COL1A1 2005 National Library of Medicine Bethesda, Md Updated July 1. Available at: http://ghr.nlm.nih.gov/gene=col1a1. Accessed December 14, 2004
    • (2005) Genetics Home Reference (Online Consumer Guide). COL1A1
  • 13
    • 28844498511 scopus 로고    scopus 로고
    • National Library of Medicine Bethesda, Md Updated July 1.
    • Genetics Home Reference (online consumer guide). COL1A2 2005 National Library of Medicine Bethesda, Md Updated July 1. Available at: http://ghr.nlm.nih.gov/gene=col1a2. Accessed December 14, 2004
    • (2005) Genetics Home Reference (Online Consumer Guide). COL1A2
  • 14
    • 28844498511 scopus 로고    scopus 로고
    • National Library of Medicine Bethesda, Md Updated July 1.
    • Genetics Home Reference (online consumer guide). COL5A1 2005 National Library of Medicine Bethesda, Md Updated July 1. Available at: http://ghr.nlm.nih.gov/gene=col5a1. Accessed December 14, 2004
    • (2005) Genetics Home Reference (Online Consumer Guide). COL5A1
  • 15
    • 28844498511 scopus 로고    scopus 로고
    • National Library of Medicine Bethesda, Md Updated July 1.
    • Genetics Home Reference (online consumer guide). COL5A2 2005 National Library of Medicine Bethesda, Md Updated July 1. Available at: http://ghr.nlm.nih.gov/gene=col5a2. Accessed December 14, 2004
    • (2005) Genetics Home Reference (Online Consumer Guide). COL5A2
  • 17
    • 5444234920 scopus 로고    scopus 로고
    • Giant bladder diverticula causing bladder outlet obstruction in children
    • A.R. Shukla, R.A. Bellah, D.A. Canning, M.C. Carr, H.M. Snyder Giant bladder diverticula causing bladder outlet obstruction in children J Urol 172 2004 1977 1979
    • (2004) J Urol , vol.172 , pp. 1977-1979
    • Shukla, A.R.1    Bellah, R.A.2    Canning, D.A.3    Carr, M.C.4    Snyder, H.M.5
  • 18
    • 0030802233 scopus 로고    scopus 로고
    • Increased risk for inguinal hernia in patients with Ehlers-Danlos syndrome
    • M.S. Liem, Y. van der Graaf, F.A. Beemer, T.J. van Vroonhoven Increased risk for inguinal hernia in patients with Ehlers-Danlos syndrome Surgery 122 1997 114 115
    • (1997) Surgery , vol.122 , pp. 114-115
    • Liem, M.S.1    Van Der Graaf, Y.2    Beemer, F.A.3    Van Vroonhoven, T.J.4
  • 21
    • 28844498511 scopus 로고    scopus 로고
    • National Library of Medicine Bethesda, Md Updated July 1.
    • Genetics Home Reference (online consumer guide). TNXB 2005 National Library of Medicine Bethesda, Md Updated July 1. Available at: http://ghr.nlm.nih.gov/gene=tnxb. Accessed December 14, 2004
    • (2005) Genetics Home Reference (Online Consumer Guide). TNXB
  • 22
    • 0036238274 scopus 로고    scopus 로고
    • Pregnancy and the Ehlers-Danlos syndrome: A retrospective study in a Dutch population
    • J. Lind, H.C. Wallenburg Pregnancy and the Ehlers-Danlos syndrome a retrospective study in a Dutch population Acta Obstet Gynecol Scand 81 2002 293 300
    • (2002) Acta Obstet Gynecol Scand , vol.81 , pp. 293-300
    • Lind, J.1    Wallenburg, H.C.2
  • 23
    • 0032825205 scopus 로고    scopus 로고
    • Abnormal presentation in labor and fetal growth of affected infants with type III Ehlers-Danlos syndrome
    • K.A. Roop, B.C. Brost Abnormal presentation in labor and fetal growth of affected infants with type III Ehlers-Danlos syndrome Am J Obstet Gynecol 181 1999 752 753
    • (1999) Am J Obstet Gynecol , vol.181 , pp. 752-753
    • Roop, K.A.1    Brost, B.C.2
  • 24
    • 0034778976 scopus 로고    scopus 로고
    • Hypermobility type of Ehlers-Danlos syndrome: Influence of pregnancies
    • F. Golfier, Peyrol, J. Attia-Sobol, H. Marret, D. Raudrant Hypermobility type of Ehlers-Danlos syndrome influence of pregnancies Clin Genet 60 2001 240 241
    • (2001) Clin Genet , vol.60 , pp. 240-241
    • Golfier, F.1    Peyrol2    Attia-Sobol, J.3    Marret, H.4    Raudrant, D.5
  • 25
    • 30144438787 scopus 로고    scopus 로고
    • Ehlers-Danlos syndrome, Hypermobility type (online article)
    • http://www.geneclinics.org/servlet/access?db=geneclinics&site= gt&id=8888891&key=4WiiQ0pNC4L5t&gry=&fcn=y&fw= IaJN&filename=/profiles/eds3/index.html.
    • H. Levy Ehlers-Danlos syndrome, Hypermobility type (online article) GeneReviews 2004 Seattle, Wash: www.genetests.org. Posted October 22. Available at: http://www.geneclinics.org/servlet/access?db=geneclinics&site=gt&id= 8888891&key=4WiiQ0pNC4L5t&gry=&fcn=y&fw=IaJN&filename=/ profiles/eds3/index.html. Accessed on February 3, 2005
    • (2004) GeneReviews
    • Levy, H.1
  • 26
    • 0036314742 scopus 로고    scopus 로고
    • Clinical and genetic features of vascular Ehlers-Danlos syndrome
    • D.P. Germain Clinical and genetic features of vascular Ehlers-Danlos syndrome Ann Vasc Surg 16 2002 391 397
    • (2002) Ann Vasc Surg , vol.16 , pp. 391-397
    • Germain, D.P.1
  • 27
    • 0034054910 scopus 로고    scopus 로고
    • Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
    • M. Pepin, U. Schwarze, A. Superti-Furga, P.H. Byers Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type N Engl J Med 342 2000 673 680
    • (2000) N Engl J Med , vol.342 , pp. 673-680
    • Pepin, M.1    Schwarze, U.2    Superti-Furga, A.3    Byers, P.H.4
  • 28
    • 28844480538 scopus 로고    scopus 로고
    • Ehlers-Danlos syndrome, vascular type (online article)
    • Seattle, Wash: Revised January 25, http://www.genetests.org/servlet/ access?db=geneclinics&site=gt&id=8888890&key=urbQYAIvOehP3&gry= &fcn=y&fw=sVjh&filename=/profiles/eds4/index.html.
    • Pepin M, Byers P. Ehlers-Danlos syndrome, vascular type (online article). GeneReviews. Seattle, Wash: www.genetests.org. Revised January 25, 2005. Available at: http://www.genetests.org/servlet/access?db=geneclinics&site= gt&id=8888890&key=urbQYAIvOehP3&gry=&fcn=y&fw= sVjh&filename=/profiles/eds4/index.html. Accessed February 3, 2005.
    • (2005) GeneReviews
    • Pepin, M.1    Byers, P.2
  • 29
    • 28844498511 scopus 로고    scopus 로고
    • National Library of Medicine Bethesda, Md Updated July 1.
    • Genetics Home Reference (online consumer guide). COL31A 2005 National Library of Medicine Bethesda, Md Updated July 1. Available at: http://ghr.nlm.nih.gov/gene=col3a1. Accessed December 14, 2004
    • (2005) Genetics Home Reference (Online Consumer Guide). COL31A
  • 30
  • 31
    • 0035154996 scopus 로고    scopus 로고
    • Vascular Ehlers-Danlos syndrome undiagnosed during life
    • M. Jarmulowicz, W.G. Phillips Vascular Ehlers-Danlos syndrome undiagnosed during life J R Soc Med 94 2001 28 30
    • (2001) J R Soc Med , vol.94 , pp. 28-30
    • Jarmulowicz, M.1    Phillips, W.G.2
  • 32
    • 0034750073 scopus 로고    scopus 로고
    • Intracranial aneurysms in Ehlers-Danlos syndrome type IV in early childhood
    • T. Kato, H. Hattori, T. Yorifuji, Y. Tashiro, T. Nakahata Intracranial aneurysms in Ehlers-Danlos syndrome type IV in early childhood Pediatr Neurol 25 2001 336 339
    • (2001) Pediatr Neurol , vol.25 , pp. 336-339
    • Kato, T.1    Hattori, H.2    Yorifuji, T.3    Tashiro, Y.4    Nakahata, T.5
  • 33
    • 0036891323 scopus 로고    scopus 로고
    • Fatal cardiovascular complications in a patient with Ehlers-Danlos syndrome type IV and dextrocardia
    • S. Jazayeri, M.C. Gomez, E. Tatou, M. Saleh, J.P. Parthiot Fatal cardiovascular complications in a patient with Ehlers-Danlos syndrome type IV and dextrocardia Cardiovasc Surg 10 2002 640 643
    • (2002) Cardiovasc Surg , vol.10 , pp. 640-643
    • Jazayeri, S.1    Gomez, M.C.2    Tatou, E.3    Saleh, M.4    Parthiot, J.P.5
  • 34
    • 0034930007 scopus 로고    scopus 로고
    • Anaesthesia for caesarean section in a patient with Ehlers-Danlos syndrome and mitral valve prolapse
    • P. Dill-Russell, L.S. Jones Anaesthesia for caesarean section in a patient with Ehlers-Danlos syndrome and mitral valve prolapse Int J Obstet Anesth 10 2001 192 197
    • (2001) Int J Obstet Anesth , vol.10 , pp. 192-197
    • Dill-Russell, P.1    Jones, L.S.2
  • 35
    • 84870061020 scopus 로고    scopus 로고
    • Ehlers-Danlos syndrome, kyphoscoliotic form (online article)
    • http://www.genetests.org/servlet/access?db=geneclinics&site= gt&id=8888892&key=mVUbjSm4NwRk5&gry=&fcn=y&fw= P2BA&filename=/profiles/eds6/index.html.
    • R. Wenstrup Ehlers-Danlos syndrome, kyphoscoliotic form (online article) GeneReviews 2003 Seattle, Wash: www.genetests.org. Updated March 12. Available at: http://www.genetests.org/servlet/access?db=geneclinics&site=gt&id= 8888892&key=mVUbjSm4NwRk5&gry=&fcn=y&fw=P2BA&filename=/ profiles/eds6/index.html. Accessed February 3, 2005
    • (2003) GeneReviews
    • Wenstrup, R.1
  • 36
    • 0031825388 scopus 로고    scopus 로고
    • Ehlers-Danlos syndrome type VI (EDS VI): Problems of diagnosis and management
    • P. Heim, M. Raghunath, U. Heise, R. Myllyla, A. Kohlschutter Ehlers-Danlos syndrome type VI (EDS VI) problems of diagnosis and management Acta Paediatr 87 1998 708 710
    • (1998) Acta Paediatr , vol.87 , pp. 708-710
    • Heim, P.1    Raghunath, M.2    Heise, U.3    Myllyla, R.4    Kohlschutter, A.5
  • 37
    • 28844498511 scopus 로고    scopus 로고
    • National Library of Medicine Bethesda, Md Updated July 1.
    • Genetics Home Reference (online consumer guide). PLOD1 2005 National Library of Medicine Bethesda, Md Updated July 1. Available at: http://ghr.nlm.nih.gov/gene=plod. Accessed December 14, 2004
    • (2005) Genetics Home Reference (Online Consumer Guide). PLOD1
  • 39
    • 4644297498 scopus 로고    scopus 로고
    • Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (type VIIC) and common polymorphisms in the ADAMTS2 gene
    • A. Colige, L. Nuytinck, I. Hausser, A. van Essen, M. Thiry Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (type VIIC) and common polymorphisms in the ADAMTS2 gene J Invest Dermatol 123 2004 656 663
    • (2004) J Invest Dermatol , vol.123 , pp. 656-663
    • Colige, A.1    Nuytinck, L.2    Hausser, I.3    Van Essen, A.4    Thiry, M.5
  • 40
    • 28844498511 scopus 로고    scopus 로고
    • National Library of Medicine Bethesda, Md Updated July 1.
    • Genetics Home Reference (online consumer guide). ADAMTS2 2005 National Library of Medicine Bethesda, Md Updated July 1. Available at: http://ghr.nlm.nih.gov/gene=adamts2. Accessed December 14, 2004
    • (2005) Genetics Home Reference (Online Consumer Guide). ADAMTS2
  • 41
    • 0033911541 scopus 로고    scopus 로고
    • Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen
    • L. Nuytinck, M. Freund, L. Lagae, G. Pierard, T. Hermanns-Le Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen Am J Hum Genet 66 2000 1398 1402
    • (2000) Am J Hum Genet , vol.66 , pp. 1398-1402
    • Nuytinck, L.1    Freund, M.2    Lagae, L.3    Pierard, G.4    Hermanns-Le, T.5
  • 42
    • 28844498510 scopus 로고    scopus 로고
    • Structure and development of the skin and cutaneous appendages
    • R. Polin W. Fox S. Abman WB Saunders Philadelphia, Pa
    • D. Chu, C. Loomis Structure and development of the skin and cutaneous appendages R. Polin W. Fox S. Abman Fetal and Neonatal Physiology 2004 WB Saunders Philadelphia, Pa 592
    • (2004) Fetal and Neonatal Physiology , pp. 592
    • Chu, D.1    Loomis, C.2
  • 43
    • 0032796802 scopus 로고    scopus 로고
    • Preterm premature rupture of membranes in a patient with the hypermobility type of the Ehlers-Danlos syndrome. a case report
    • M. De Vos, L. Nuytinck, C. Verellen, A. De Paepe Preterm premature rupture of membranes in a patient with the hypermobility type of the Ehlers-Danlos syndrome. A case report Fetal Diagn Ther 14 1999 244 277
    • (1999) Fetal Diagn Ther , vol.14 , pp. 244-277
    • De Vos, M.1    Nuytinck, L.2    Verellen, C.3    De Paepe, A.4
  • 44
    • 28844460007 scopus 로고    scopus 로고
    • Cutaneous signs in heritable disorders of the connective tissue
    • C.I. Arun, P. Aparna Cutaneous signs in heritable disorders of the connective tissue Ind J Dermatol Venerol Leprol 70 2004 253 255
    • (2004) Ind J Dermatol Venerol Leprol , vol.70 , pp. 253-255
    • Arun, C.I.1    Aparna, P.2
  • 46
    • 28844482316 scopus 로고    scopus 로고
    • http://www.orthop.washington.edu/uw/ehlersdanlos/tabID__3376/ItemID__32/ PageID__1/Articles/Default.aspx.
    • University of Washington Medicine (online article). Ehlers-Danlos syndrome 2005 Seattle, Wash: www.orthop.washington.edu. Updated February 18. Available at: http://www.orthop.washington.edu/uw/ehlersdanlos/tabID__3376/ ItemID__32/PageID__1/Articles/Default.aspx. Accessed December 14, 2004
    • (2005) University of Washington Medicine (Online Article). Ehlers-Danlos Syndrome
  • 47
    • 0027512114 scopus 로고
    • A survey of patients with Ehlers-Danlos syndrome
    • S. Ainsworth, P. Aulicino A survey of patients with Ehlers-Danlos syndrome Clin Orthop Rel Res 286 1993 250 256
    • (1993) Clin Orthop Rel Res , vol.286 , pp. 250-256
    • Ainsworth, S.1    Aulicino, P.2
  • 48
    • 0141888342 scopus 로고    scopus 로고
    • Acceptance of disability and sense of coherence in individuals with Ehlers-Danlos syndrome
    • B. Berglund, A. Mattiasson, G. Nordstrom Acceptance of disability and sense of coherence in individuals with Ehlers-Danlos syndrome J Clin Nurs 12 2003 770 777
    • (2003) J Clin Nurs , vol.12 , pp. 770-777
    • Berglund, B.1    Mattiasson, A.2    Nordstrom, G.3


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