BOR sendromu

BOR sendromu (branchiootorenal spectrum; Melnick-Fraser sendromu), otosomal dominant aktarılan kalıtsal bir sendromdur.[1][2][3]

Boyunda ikinci farengeal ark artıklarından kökenli, her iki yanda (bilateral) brankiyal kistler ve fistüller (bilateral) vardır. Kulaklar küçük ve kepçemsidir; çevresinde çukurlar vardır. Dış kulak yolu ve ağzı dardır. İç kulak anomalileri (Mondini malformasyonu) saptanır. Hemen her hastanın işitme sorunları vardır. Bazı hastalarda gözyaşı kanalı oluşmamıştır ya da aşırı dardır. Çiğneme sırasında gözyaşı akması saptanır. Katarakt olabilir.[1][4][5]

Yüz uzun–dardır, az da olsa fasiyal paralizi görülebilmektedir. Altçene geridedir (retrognati); çiğneme düzleminde “overbite” türü anomali saptanır. Çukur damak ve damakta kısa bir yarık ile küçükdil yarığı görülür.[1][4][5]

Böbrek malformasyonları, hidronefroz, polikistik böbrekler ve böbreklerde dönüklük belirlenir; üreter obstrüksiyonları olabilir. Böbrek anomalilerinin saptanmadığı tipe branchio-oto sendrom (BOS sendromu) adı verilmektedir. Otofasiyoservikal sendrom ile de aleldir.[1][4][5][6]

Kaynakça

  1. ^ a b c d Legius E, Fryns JP, Van Den Berghe H. Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome. Clinical Genetics, 37: 347-350, 1990
  2. ^ Chang EH, Menezes M, Meyer NC, et al. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Human Mutation, 23:582–589, 2004
  3. ^ Stockley TL, Mendoza-Londono R, Propst EJ, et al. A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism. American Journal of Medical Genetics A, 149A: 322-327, 2009
  4. ^ a b c Kochhar A, Fischer SM, Kimberling WJ, Smith RJ. Branchio-oto-renal syndrome. American Journal of Medical Genetics A, 143A(14):1671-1678, 2007
  5. ^ a b c Izzedine H, Tankere F, Launay-Vacher V, Deray G. Ear and kidney syndromes: molecular versus clinical approach. Kidney International, 65: 369-385, 2004
  6. ^ Brophy PD, Alasti F, Darbro BW, et al. Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes. Human Genetics, 132(12):1339-1350, 2013

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