van der Woude sendromu | Demarquay | popliteal pterygium sendromu |

van der Woude sendromu

Demarquay sendromu

Kalıtsal - AD

Kız çocuklarında daha fazla

Yarık dudak

Yarık damak

Alt dudakta fistüller

Fistüllerden mukus içeren tükürük gelebilmesi

Hipodonti

Kondo S, Schutte BC, Richardson RJ, et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nature Genetics, 32(2):285-289, 2002
de Medeiros F, Hansen L, Mawlad E, et al. A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. American Journal of Medical Genetics A, 146A: 1605-1608, 2008
de Lima RL, Hoper SA, Ghassibe M, et al. Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. Genetics in Medicine, 11(4):241–247, 2009
Ferrero GB, Baldassarre G, Panza E, et al. A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. European Journal of Pediatrics, 169:223–228, 2010