Popliteal pterygium sendromu

Popliteal pterygium sendromu, otosomal dominant yolla aktarılan kalıtsal bir sendromdur.^[1]^[2]^[3] Bu sendromun daha hafif türü olan van der Woude sendromu ile ağır (letal; öldürücü) türü olan Bartsocas-Papas sendromu tanımlanmıştır.^[4]^[5]

Göz kapaklarında ipliksi yapışıklıklar görülür. Alt dudakta çukurcuklar ve mukozasında minik kistler bulunur. Yarık dudak ve yarık damak saptanır. Çeneler arasında, çeneleri birbirlerine bağlayan konjenital bantlar vardır (singnati).^[6]^[7]

Erkeklerde skrotum tam oluşmamıştır ve yarıktır (scrotum bifida). Testisler skrotuma inememiştir. Kız çocuklarında vajina ve uterus oluşumu yetersizdir (hipoplazi). Pubis kılları bacakların arasına doğru yayılmıştır. Omurga sisteminde spina bifida saptanır. Diz arkası pterigiumlarda Diz hareketlerini kısıtlayan kanatsı deri çıkıntıları (popliteal pterigium) saptanır. Ayaklar çarpıktır (ekinovarus). Parmaklarda kısalık, polidaktili ve sindaktili olabilir. Tırnakları kuşatan deride piramide benzer hiperplazi vardır. Aksesuar meme ya da meme ucu ile ürogenital anomalilere rastlanabilir.^[5]^[6]^[7]

Kaynakça

^ Matsuzawa N, Kondo S, Shimozato K,et al. Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome. American Journal of Medical Genetics, 152A: 2262-2267, 2010
^ 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
^ 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
^ ^a ^b 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
^ ^a ^b Mahalik SK, Menon P. Popliteal pterygium syndrome. Journal of the Indian Association of Pediatric Surgeons, 15(3):110-111, 2010
^ ^a ^b 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

[1] Matsuzawa N, Kondo S, Shimozato K,et al. Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome. American Journal of Medical Genetics, 152A: 2262-2267, 2010

[2] 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

[3] 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

[4] 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

[:0-5] 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

[:1-6] Mahalik SK, Menon P. Popliteal pterygium syndrome. Journal of the Indian Association of Pediatric Surgeons, 15(3):110-111, 2010

[:2-7] 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

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