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Xu, C. Klippel-Trenaunay Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4455 (accessed on 26 September 2026).
Xu C. Klippel-Trenaunay Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4455. Accessed September 26, 2026.
Xu, Camila. "Klippel-Trenaunay Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4455 (accessed September 26, 2026).
Xu, C. (2020, December 23). Klippel-Trenaunay Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4455
Xu, Camila. "Klippel-Trenaunay Syndrome." Encyclopedia. Web. 23 December, 2020.
Klippel-Trenaunay Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/klippel-trenaunay-syndrome

Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations.

genetic conditions

References

  1. Berry SA, Peterson C, Mize W, Bloom K, Zachary C, Blasco P, Hunter D.Klippel-Trenaunay syndrome. Am J Med Genet. 1998 Oct 2;79(4):319-26. Review.
  2. Gloviczki P, Driscoll DJ. Klippel-Trenaunay syndrome: current management.Phlebology. 2007;22(6):291-8. Review.
  3. Jacob AG, Driscoll DJ, Shaughnessy WJ, Stanson AW, Clay RP, Gloviczki P.Klippel-Trénaunay syndrome: spectrum and management. Mayo Clin Proc. 1998Jan;73(1):28-36.
  4. Kihiczak GG, Meine JG, Schwartz RA, Janniger CK. Klippel-Trenaunay syndrome: amultisystem disorder possibly resulting from a pathogenic gene for vascular andtissue overgrowth. Int J Dermatol. 2006 Aug;45(8):883-90. Review.
  5. Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, GuevaraCJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, Spencer SA, Trenor CC 3rd, Upton J, Zurakowski D, Perkins JA, Kirsh A, Bennett JT, Dobyns WB, Kurek KC, Warman ML, McCarroll SA, Murillo R. Lymphaticand other vascular malformative/overgrowth disorders are caused by somaticmutations in PIK3CA. J Pediatr. 2015 Apr;166(4):1048-54.e1-5. doi:10.1016/j.jpeds.2014.12.069.
  6. Vahidnezhad H, Youssefian L, Uitto J. Klippel-Trenaunay syndrome belongs tothe PIK3CA-related overgrowth spectrum (PROS). Exp Dermatol. 2016 Jan;25(1):17-9.doi: 10.1111/exd.12826.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 988
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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