L

 

Lenfödem-distikiazis sendromu (lymphedema-distichiasis)

Kalıtsal - AD

İki sıralı kirpik

Meibomian bezlerinin duktuslarında kirpikler (distichiasis)

Kornea ülserleri

Konjunktivit

Arpacıklar

Ptozis

Yarık dudak

Yarık damak

Fallot tetralojisi

Aritmiler

Varisler

Alt ekstremitelerde ödem

 

  • Brice G, Mansour S, Bell R, et al. Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. Journal of Medical Genetics, 39: 478-483, 2002

  • Yıldırım-Toruner C, Subramanian K, El Manjra L, et al. A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus. American Journal of Medical Genetics, 131A: 281-286, 2004

  • Kumar S, Carver C, McCall S, et al. Lymphoedema Consortium. A family with lymphoedema-distichiasis where identical twins have a discordant phenotype. (Letter) Clinical Genetics, 71: 285-287, 2007