Popliteal pterygium sendromu

Kalıtsal - AD

Göz kapaklarında ipliksi yapışıklıklar

Alt dudakta mukosel

Yarık dudak

Yarık damak

Çeneler arasında konjenital bantlar (singnati)

Ekstremite anomalileri (equinovarus, popliteal pterygium)

Diz arkası pterigiumlarda hareketlerde kısıtlanma

Parmak anomalileri (hipoplazi, polidaktili, sindaktili)

Spina bifida

Tırnakları kuşatan deride piramide benzer hiperplazi

Aksesuar meme ya da meme ucu

Ürogenital anomaliler (hipoplazi/malformasyon)

Fenotipler:

Hafif türü: van der Woude sendromu

Letal türü: Bartsocas-Papas sendromu

 

  • Wong FK, Gustafsson B. Popliteal pterygium syndrome in a Swedish family-clinical findings and genetic analysis with the van der Woude syndrome locus at 1q32-q41. Acta Odontologica Scandinavica, 58:2, 85-88, 2000

  • 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 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

  • Mahalik SK, Menon P. Popliteal pterygium syndrome. Journal of the Indian Association of Pediatric Surgeons, 15(3):110-111, 2010

  • 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

  • Bahetwar SK, Pandey RK, Bahetwar TS. Popliteal pterygium syndrome: orofacial and general features. Journal of Indian Society of Pedodontics and Preventive Dentistry, 29(4):333-335, 2011

  • Leslie EJ, Standley J, Compton J, et al. Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. Genetics in Medicine, 15(5):338-344, 2013

  • Erturan G, Holton J, Wall S, Giele H. Bartsocas-Papas Syndrome: A case report and review of the literature. Annals of Plastic Surgery, 76(4):459-462, 2016