B
BOR sendromu (brachio-oto-renal spectrum;
Melnick-Fraser sendromu)
Kalıtsal - AD
Boyunda ikinci brankiyal yarık artıkları
Brankiyal kistler -fistüller (bilateral)
Kepçe kulaklar
Kulaklar çevresinde çukurlar
Dış kulak yolu darlığı
Mondini malformasyonu (iç kulak anomalileri)
İşitme sorunları
Gözyaşı kanalı aplazisi/stenozu
Yüz uzun–dar
Fasiyal paralizi
Çiğneme sırasında gözyaşı akması
Retrognati
Çukur damak
Kısa-yarık damak
Overbite
Uvula bifida
Böbrek malformasyonları (hipoplazi, agenesis, displazi)
Polikistik böbrekler
Üriner obstrüksiyonlar
Hidronefroz
Böbrek anomalileri
Böbrek anomalileri yoksa: brachio-oto sendrom; BOS)
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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
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Izzedine H, Tankere F, Launay-Vacher V, Deray G. Ear and kidney syndromes: molecular versus clinical approach. Kidney International, 65: 369-385, 2004
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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
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Kochhar A, Fischer SM, Kimberling WJ, Smith RJ. Branchio-oto-renal syndrome. American Journal of Medical Genetics A, 143A(14):1671-1678, 2007
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Olavarrieta L, Morales-Angulo C, del Castillo I, et al. Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. Clinical Genetics, 73: 262-267, 2008
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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
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Sanchez-Valle A, Wang X, Potocki L, et al. HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. American Journal of Medical Genetics, 152A: 2854-2860, 2010
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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