Literature DB >> 9708623

Renal failure and deafness: branchio-oto-renal syndrome.

M Misra1, K D Nolph.   

Abstract

Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant condition that may present with hearing loss, branchial cysts, and renal failure. The characteristic phenotypic expression of the full syndrome may be partial or complete, and a whole range of renal abnormalities may be present. Its similarity to Alport's syndrome may lead to misdiagnosis. We report here a case of adult-onset renal failure in a 44-year-old white man previously believed to have Alport's syndrome and a review the relevant literature.

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Year:  1998        PMID: 9708623     DOI: 10.1053/ajkd.1998.v32.pm9708623

Source DB:  PubMed          Journal:  Am J Kidney Dis        ISSN: 0272-6386            Impact factor:   8.860


  7 in total

1.  Congenital unilateral facial nerve palsy as an unusual presentation of BOR syndrome.

Authors:  Augustina Jankauskienė; Karolis Azukaitis
Journal:  Eur J Pediatr       Date:  2012-07-27       Impact factor: 3.183

2.  End-stage renal failure associated with congenital deafness.

Authors:  Nicholas M P Annear; Daniel P Gale; Sam Loughlin; Huw R Dorkins; Patrick H Maxwell
Journal:  NDT Plus       Date:  2008-03-27

3.  Congenital anomalies of kidney and hand: a review.

Authors:  Gopalakrishnan Natarajan; Dhanapriya Jeyachandran; Bala Subramaniyan; Dineshkumar Thanigachalam; Arul Rajagopalan
Journal:  Clin Kidney J       Date:  2013-02-03

Review 4.  Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review.

Authors:  Tâmara Andrade Lindau; Ana Cláudia Vieira Cardoso; Natalia Freitas Rossi; Célia Maria Giacheti
Journal:  Int Arch Otorhinolaryngol       Date:  2013-11-05

5.  Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome.

Authors:  L Spahiu; B Merovci; V Ismaili Jaha; A Batalli Këpuska; H Jashari
Journal:  Balkan J Med Genet       Date:  2017-03-04       Impact factor: 0.519

6.  Anesthetic management of a patient with branchio-oto-renal syndrome.

Authors:  Masanori Tsukamoto; Takeshi Yokoyama
Journal:  J Dent Anesth Pain Med       Date:  2017-09-25

Review 7.  Anatomical and audiological considerations in branchiootorenal syndrome: A systematic review.

Authors:  Kirsty Biggs; Gemma Crundwell; Christopher Metcalfe; Jameel Muzaffar; Peter Monksfield; Manohar Bance
Journal:  Laryngoscope Investig Otolaryngol       Date:  2022-02-08
  7 in total

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