Literature DB >> 23120126

Non-inherited manifestation of bilateral branchial fistulae, bilateral pre-auricular sinuses and bilateral hearing loss: A variant of branchio-oto-renal syndrome.

Indu Rana1, Rajiv Dhawan, Sanjay Gudwani, Rajendra Bothra, N N Mathur.   

Abstract

A rare manifestation of branchio-oto-renal like syndrome as an isolated finding with normal chromosomal analysis in a 6 year old child with bilateral branchial simises, bilateral pre-auricular simuses, bilateral auricular malformation, and bilateral hearing loss is presented here.

Entities:  

Keywords:  Branchial sinus; Branchio-Oto-Renal Syndrome; Hearing loss; Pre-auricular sinus

Year:  2005        PMID： 23120126      PMCID： PMC3451556          DOI： 10.1007/BF02907630

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


  8 in total

Review 1.  External ear malformations: epidemiology, genetics, and natural history.

Authors:  M Melnick; N C Myrianthopoulos; N W Paul
Journal:  Birth Defects Orig Artic Ser       Date:  1979

2.  Inheritance of branchial sinuses and preauricular fistulae.

Authors:  A G Hunter
Journal:  Teratology       Date:  1974-04

3.  Localization of the gene for branchiootorenal syndrome to chromosome 8q.

Authors:  R J Smith; K B Coppage; J K Ankerstjerne; D T Capper; S Kumar; J Kenyon; S Tinley; K Comeau; W J Kimberling
Journal:  Genomics       Date:  1992-12       Impact factor: 5.736

4.  The earpits-deafness syndrome. Clinical and genetic aspects.

Authors:  C W Cremers; M Fikkers-Van Noord
Journal:  Int J Pediatr Otorhinolaryngol       Date:  1980-11       Impact factor: 1.675

5.  Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q.

Authors:  E A Haan; Y J Hull; S White; R Cockington; P Charlton; D F Callen
Journal:  Am J Med Genet       Date:  1989-04

6.  Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family.

Authors:  S Kumar; W J Kimberling; J B Kenyon; R J Smith; H A Marres; C W Cremers
Journal:  Hum Mol Genet       Date:  1992-10       Impact factor: 6.150

7.  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.  Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies.

Authors:  F C Fraser; D Ling; D Clogg; B Nogrady
Journal:  Am J Med Genet       Date:  1978
  8 in total
  2 in total

Review 1.  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

Review 2.  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
  2 in total

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