Literature DB >> 8301480

Branchio-oto-renal syndrome: incidence in three generations of a family.

C Gutierrez1, C Bardají, L Bento, M A Martinez, J Conde.   

Abstract

It is well known that the persistence of alterations in the normal embryological development of branchial arches can lead to preauricular and cervical fistulas within a family. However, until 1970, there were no reports of dysplasia affecting the branchial, otic, and renal systems (BOR syndrome) with dominant autosomic inheritance. The authors report on a family with BOR syndrome of different expressivity in three generations, and describe an unusual case of bilateral fistulas of the first and second branchial arches in a newborn.

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Year:  1993        PMID: 8301480     DOI: 10.1016/0022-3468(93)90086-z

Source DB:  PubMed          Journal:  J Pediatr Surg        ISSN: 0022-3468            Impact factor:   2.545


  2 in total

1.  Heusinger-s syndrome-a case report.

Authors:  A R Kumar; R D Chattopadhyaya
Journal:  Indian J Otolaryngol Head Neck Surg       Date:  2000-07

Review 2.  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
  2 in total

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