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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  • Izzedine H, Tankere F, Launay-Vacher V, Deray G. Ear and kidney syndromes: molecular versus clinical approach. Kidney International, 65: 369-385, 2004

  • 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

  • Kochhar A, Fischer SM, Kimberling WJ, Smith RJ. Branchio-oto-renal syndrome. American Journal of Medical Genetics A, 143A(14):1671-1678, 2007

  • 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

  • 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

  • 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

  • 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