Literature DB >> 24533416

Unilateral Branchial Sinus with Unilateral Renal Agenesis: A Variant of BOR Syndrome? A Case Report.

A Safaya1, S Shah2, B Doshi2.   

Abstract

Patient presented with a congenital discharging branchial sinus. Pre-operative work up including a CT scan of the abdomen-pelvis revealed absence of the left kidney. Branchio-Oto-Renal (BOR) syndrome, a rare autosomal dominant disorder is characterized by branchial arch anomalies, otological and renal anomalies. Clinical manifestations tend to have considerable variability, But no case with branchial and renal abnormality sans otological defects has been described yet in the spectrum of BOR syndrome variants.

Entities:  

Keywords:  BOR—syndrome; Branchial sinus; Renal agenesis

Year:  2012        PMID: 24533416      PMCID: PMC3918292          DOI: 10.1007/s12070-011-0441-1

Source DB:  PubMed          Journal:  Indian J Otolaryngol Head Neck Surg        ISSN: 2231-3796


  8 in total

1.  Phenotypic manifestations of branchio-oto-renal syndrome.

Authors:  A Chen; M Francis; L Ni; C W Cremers; W J Kimberling; Y Sato; P D Phelps; S C Bellman; M J Wagner; M Pembrey
Journal:  Am J Med Genet       Date:  1995-09-25

2.  Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.

Authors:  Bethan E Hoskins; Carl H Cramer; Derek Silvius; Dan Zou; Richard M Raymond; Dana J Orten; William J Kimberling; Richard J H Smith; Dominique Weil; Christine Petit; Edgar A Otto; Pin-Xian Xu; Friedhelm Hildebrandt
Journal:  Am J Hum Genet       Date:  2007-02-22       Impact factor: 11.025

3.  Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings.

Authors:  S Ceruti; C Stinckens; C W R J Cremers; J W Casselman
Journal:  Otol Neurotol       Date:  2002-03       Impact factor: 2.311

4.  Inner ear anomalies are frequent but nonobligatory features of the branchio-oto-renal syndrome.

Authors:  Martijn H Kemperman; Sacha M P Koch; Frank B M Joosten; Shrawan Kumar; Patrick L M Huygen; Cor W R J Cremers
Journal:  Arch Otolaryngol Head Neck Surg       Date:  2002-09

5.  Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders.

Authors:  M Melnick; M E Hodes; W E Nance; H Yune; A Sweeney
Journal:  Clin Genet       Date:  1978-05       Impact factor: 4.438

6.  Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.

Authors:  Eugene H Chang; Maithilee Menezes; Nicole C Meyer; Robert A Cucci; Virginie S Vervoort; Charles E Schwartz; Richard J H Smith
Journal:  Hum Mutat       Date:  2004-06       Impact factor: 4.878

7.  SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

Authors:  Rainer G Ruf; Pin-Xian Xu; Derek Silvius; Edgar A Otto; Frank Beekmann; Ulla T Muerb; Shrawan Kumar; Thomas J Neuhaus; Markus J Kemper; Richard M Raymond; Patrick D Brophy; Jennifer Berkman; Michael Gattas; Valentine Hyland; Eva-Maria Ruf; Charles Schwartz; Eugene H Chang; Richard J H Smith; Constantine A Stratakis; Dominique Weil; Christine Petit; Friedhelm Hildebrandt
Journal:  Proc Natl Acad Sci U S A       Date:  2004-05-12       Impact factor: 11.205

8.  Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss.

Authors:  F C Fraser; J R Sproule; F Halal
Journal:  Am J Med Genet       Date:  1980
  8 in total

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