Literature DB >> 6859100

Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: a new syndrome?

F C Fraser, S Aymé, F Halal, J Sproule.   

Abstract

We report two families in which propositi had severe bilateral sensorineural hearing loss, a preauricular pit or tag, and duplication of the ureters or bifid renal pelvices. Other relatives had one or more of these anomalies in a pattern suggesting autosomal dominant inheritance with reduced penetrance and variable expressivity. We suggest the term "branchio-oto-ureteral syndrome" to designate this condition.

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Mesh:

Year:  1983        PMID: 6859100     DOI: 10.1002/ajmg.1320140311

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  5 in total

1.  Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.

Authors:  S Kumar; K Deffenbacher; H A Marres; C W Cremers; W J Kimberling
Journal:  Am J Hum Genet       Date:  2000-04-03       Impact factor: 11.025

2.  Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree.

Authors:  R König; S Fuchs; C Dukiet
Journal:  Eur J Pediatr       Date:  1994-06       Impact factor: 3.183

3.  Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping.

Authors:  S Kumar; W J Kimberling; C J Connolly; S Tinley; H A Marres; C W Cremers
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

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

Review 5.  Supra-auricular versus Sinusectomy Approaches for Preauricular Sinuses.

Authors:  Mohammad Waheed El-Anwar; Ahmed Shaker ElAassar
Journal:  Int Arch Otorhinolaryngol       Date:  2016-04-26
  5 in total

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