eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics
Ehlers-Danlos Syndrome: Multimedia
Updated: Mar 25, 2009
Multimedia
![]() | Media file 1: Patient with Ehlers-Danlos syndrome. Note the abnormal ability to elevate the right toe. Courtesy of Enrico Ceccolini, MD. |
![]() | Media file 2: Girl with Ehlers-Danlos syndrome. Dorsiflexion of all the fingers is easy and absolutely painless. Courtesy of Enrico Ceccolini, MD. |
![]() | Media file 3: Patient with Ehlers-Danlos syndrome mitis. Joint hypermobility is less intense than with other conditions. Courtesy of Enrico Ceccolini, MD. |
More on Ehlers-Danlos Syndrome |
| Overview: Ehlers-Danlos Syndrome |
| Differential Diagnoses & Workup: Ehlers-Danlos Syndrome |
| Treatment & Medication: Ehlers-Danlos Syndrome |
| Follow-up: Ehlers-Danlos Syndrome |
Multimedia: Ehlers-Danlos Syndrome |
| References |
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References
Beighton P. The Ehlers-Danlos syndromes. In: McKusick VA, Beighton P, eds. McKusick's Heritable Disorders of Connective Tissue. 5th ed. Mosby-Year Book; 1993:189-93.
Tschernogobow A. Ein fall von cutis laxa. Jahresber Ges Med. 1892;27:562.
Gawthrop F, Mould R, Sperritt A, et al. Ehlers-Danlos syndrome. BMJ. Sep 1 2007;335(7617):448-50. [Medline].
Chen CW, Jao SW. Images in clinical medicine. Ehlers-Danlos syndrome. N Engl J Med. Sep 13 2007;357(11):e12. [Medline].
Beighton P, De Paepe A, Steinmann B, et al. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers- Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. Apr 28 1998;77(1):31-7. [Medline].
Voermans NC, van Engelen BG. Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI). Neuromuscul Disord. Nov 2008;18(11):906; author reply 907. [Medline].
Bar-Yosef O, Polak-Charcon S, Hoffman C, Feldman ZP, Frydman M, Kuint J. Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC. Am J Med Genet A. Dec 1 2008;146A(23):3054-7. [Medline].
Giunta C, Elcioglu NH, Albrecht B, et al. Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. Am J Hum Genet. Jun 2008;82(6):1290-305. [Medline].
Mataix J, Banuls J, Munoz C, et al. Periodontal Ehlers-Danlos syndrome associated with type III and I collagen deficiencies. Br J Dermatol. Apr 2008;158(4):825-30. [Medline].
Juul-Kristensen B, Rogind H, Jensen DV, et al. Inter-examiner reproducibility of tests and criteria for generalized joint hypermobility and benign joint hypermobility syndrome. Rheumatology (Oxford). Dec 2007;46(12):1835-41. [Medline].
Gotte M, Spillmann D, Yip GW, et al. Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome. Hum Mol Genet. Apr 1 2008;17(7):996-1009. [Medline].
Molloy ES, Langford CA. Vasculitis mimics. Curr Opin Rheumatol. Jan 2008;20(1):29-34. [Medline].
Zilocchi M, Macedo TA, Oderich GS, et al. Vascular Ehlers-Danlos syndrome: imaging findings. AJR Am J Roentgenol. Sep 2007;189(3):712-9. [Medline].
Giunta C, Chambaz C, Pedemonte M, Scapolan S, Steinmann B. The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure. Am J Med Genet A. May 15 2008;146A(10):1341-6. [Medline].
Faber P, Craig WL, Duncan JL, et al. The successful use of recombinant factor VIIa in a patient with vascular-type Ehlers-Danlos syndrome. Acta Anaesthesiol Scand. Oct 2007;51(9):1277-9. [Medline].
Mast KJ, Nunes ME, Ruymann FB, Kerlin BA. Desmopressin responsiveness in children with Ehlers-Danlos syndrome associated bleeding symptoms. Br J Haematol. Jan 2009;144(2):230-3. [Medline].
Yis U, Dirik E, Chambaz C, et al. Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI). Neuromuscul Disord. Mar 2008;18(3):210-4. [Medline].
Esaka EJ, Golde SH, Stever MR, Thomas RL. A maternal and perinatal mortality in pregnancy complicated by the kyphoscoliotic form of Ehlers-Danlos syndrome. Obstet Gynecol. Feb 2009;113(2 Pt 2):515-8. [Medline].
Agnew P. Evaluation of the child with ligamentous laxity. Clin Podiatr Med Surg. Jan 1997;14(1):117-30. [Medline].
Bristow J, Carey W, Egging D, et al. Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. Nov 15 2005;139C(1):24-30. [Medline].
Burrows NP. The molecular genetics of the Ehlers-Danlos syndrome. Clin Exp Dermatol. Mar 1999;24(2):99-106. [Medline].
Egging DF, van Vlijmen-Willems I, Choi J, et al. Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice. Cell Tissue Res. Jun 2008;332(3):523-32. [Medline].
Freeman RK, Swegle J, Sise MJ. The surgical complications of Ehlers-Danlos syndrome. Am Surg. Oct 1996;62(10):869-73. [Medline].
Golfier F, Peyrol S, Attia-Sobol J, et al. Hypermobility type of Ehlers-Danlos syndrome: influence of pregnancies. Clin Genet. Sep 2001;60(3):240-1. [Medline].
Grahame R. Joint hypermobility and genetic collagen disorders: are they related?. Arch Dis Child. Feb 1999;80(2):188-91. [Medline].
Hermanns-Le T, Pierard GE. Multifaceted dermal ultrastructural clues for Ehlers-Danlos syndrome with arterial rupture and type I collagen R-to-C substitution. Am J Dermatopathol. Oct 2007;29(5):449-51. [Medline].
Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. Mar 2005;37(3):275-81. [Medline].
Malfait F, Symoens S, De Backer J, et al. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. Hum Mutat. Apr 2007;28(4):387-95. [Medline].
Maltz SB, Fantus RJ, Mellett MM, et al. Surgical complications of Ehlers-Danlos syndrome type IV: case report and review of the literature. J Trauma. Aug 2001;51(2):387-90. [Medline].
Mao JR, Bristow J. The Ehlers-Danlos syndrome: on beyond collagens. J Clin Invest. May 2001;107(9):1063-9. [Medline].
McDowell G, Gahl WA. Inherited disorders of glycoprotein synthesis: cell biological insights. Proc Soc Exp Biol Med. Jun 1997;215(2):145-57. [Medline].
Pepin M, Schwarze U, Superti-Furga A, et al. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med. Mar 9 2000;342(10):673-80. [Medline].
Ploeckinger B, Ulm MR, Chalubinski K. Ehlers-Danlos syndrome type II in pregnancy. Am J Perinatol. Feb 1997;14(2):99-101. [Medline].
Pope FM, Burrows NP. Ehlers-Danlos syndrome has varied molecular mechanisms. J Med Genet. May 1997;34(5):400-10. [Medline].
Raff ML, Byers PH. Joint hypermobility syndromes. Curr Opin Rheumatol. Sep 1996;8(5):459-66. [Medline].
Sareli AE, Janssen WJ, Sterman D, et al. Clinical problem-solving. What's the connection? - A 26-year-old white man presented to our referral hospital with a 1-month history of persistent cough productive of white sputum, which was occasionally tinged with blood. N Engl J Med. Feb 7 2008;358(6):626-32. [Medline].
Schievink WI. Genetics and aneurysm formation. Neurosurg Clin N Am. Jul 1998;9(3):485-95. [Medline].
Schmitz R, Dufty JW, De P. Absence of a sharp glass transition in mode coupling theory. Phys Rev Lett. Sep 27 1993;71(13):2066-2069. [Medline].
Solomon JA, Abrams L, Lichtenstein GR. GI manifestations of Ehlers-Danlos syndrome. Am J Gastroenterol. Nov 1996;91(11):2282-8. [Medline].
Thomas DM, Wright JL, Soucek S, et al. Ehlers-Danlos syndrome: aural manifestations and treatment. Am J Otolaryngol. Nov-Dec 1996;17(6):432-3. [Medline].
Wenstrup RJ, Meyer RA, Lyle JS, et al. Prevalence of aortic root dilation in the Ehlers-Danlos syndrome. Genet Med. May-Jun 2002;4(3):112-7. [Medline].
Further Reading
Keywords
Ehlers-Danlos syndrome, EDS, connective tissue disorders, joint laxity, articular hypermobility, skin laxity, hyperextensible skin, abnormal wound healing, hypermobility syndrome, collagen abnormalities, lysyl hydroxylase deficiency, periodontitis, fibronectin, platelet aggregation defect, acrogeria, tissue fragility, vascular rupture, colonic perforation, excessive bruising, easy bruising, prominent venous plexus, petechiae, retinal detachment, dystrophic scarring, Ehlers-Danlos syndrome type 1, Ehlers-Danlos syndrome classic type, Marfan syndrome, Williams syndrome, rectal prolapse, Menkes disease, mitral valve prolapse, microcornea, myopia, scoliosis, neonatal hypotonia, short stature, micrognathia, molluscoid pseudotumors, muscle hypotonia, early onset varicose veins, pneumothorax






Multimedia: Ehlers-Danlos Syndrome