Difference between revisions of "Ehlers-Danlos syndrome"

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'''Ehlers-Danlos syndrome''' is a syndrome due to a genetic defect.
'''Ehlers-Danlos syndrome''' is a syndrome due to a genetic defect.


Features:<ref name=pmid11220066>{{cite journal |author=Jarmulowicz M, Phillips WG |title=Vascular Ehlers-Danlos syndrome undiagnosed during life |journal=J R Soc Med |volume=94 |issue=1 |pages=28–30 |year=2001 |month=January |pmid=11220066 |pmc=1280067 |doi= |url=http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1280067/pdf/11220066.pdf}}</ref>
Features:<ref name=pmid11220066>{{cite journal |author=Jarmulowicz M, Phillips WG |title=Vascular Ehlers-Danlos syndrome undiagnosed during life |journal=J R Soc Med |volume=94 |issue=1 |pages=28–30 |year=2001 |month=January |pmid=11220066 |pmc=1280067 |doi= |url=http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1280067/pdf/11220066.pdf}}</ref><ref name=Ref_PCPBoD89>{{Ref PCPBoD8|89}}</ref>
*Atrial rupture.
*Hyperextensible skin.
*Intestina rupture.
*Hypermobile joints.
*Uterine rupture.
*Ruptures of intestinal, large arteries, cornea.
*Easy bruising.
*Poor wound healing.
*Characteristic facies.
 
==Subtypes==
Classification:<ref name=Ref_PCPBoD89>{{Ref PCPBoD8|89}}</ref>
*There are six subtypes (classical, hypermobility, vascular, kyphoscoliosis, arthrochalasia, dermatosparaxis) - based molecular defects and clinical features.
*Two of six are autosomal recessive (kyphoscoliosis, dermatosparaxis); the others are autosomal dominant.


==Incidence==  
==Incidence==  

Revision as of 15:32, 4 May 2011

Ehlers-Danlos syndrome is a syndrome due to a genetic defect.

Features:[1][2]

  • Hyperextensible skin.
  • Hypermobile joints.
  • Ruptures of intestinal, large arteries, cornea.
  • Poor wound healing.

Subtypes

Classification:[2]

  • There are six subtypes (classical, hypermobility, vascular, kyphoscoliosis, arthrochalasia, dermatosparaxis) - based molecular defects and clinical features.
  • Two of six are autosomal recessive (kyphoscoliosis, dermatosparaxis); the others are autosomal dominant.

Incidence

See also

References

  1. 1.0 1.1 Jarmulowicz M, Phillips WG (January 2001). "Vascular Ehlers-Danlos syndrome undiagnosed during life". J R Soc Med 94 (1): 28–30. PMC 1280067. PMID 11220066. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1280067/pdf/11220066.pdf.
  2. 2.0 2.1 Mitchell, Richard; Kumar, Vinay; Fausto, Nelson; Abbas, Abul K.; Aster, Jon (2011). Pocket Companion to Robbins & Cotran Pathologic Basis of Disease (8th ed.). Elsevier Saunders. pp. 89. ISBN 978-1416054542.