Literature DB >> 3740720

Branchio-oto-renal dysplasia in three families.

S Gimsing, J Dyrmose.   

Abstract

Branchio-oto-renal dysplasia, often called the BOR syndrome, in its full expression consists of hearing loss of conductive, sensorineural, or mixed type; preauricular pits; auricular deformities; lateral cervical sinuses, cysts, or fistulas; and renal malformations. The condition is inherited in an autosomal dominant mode. The findings in three affected families are described, and pertinent genetic and clinical aspects are discussed. The potential seriousness of the renal and aural malformations stresses the importance of early recognition of this syndrome.

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Year:  1986        PMID: 3740720     DOI: 10.1177/000348948609500419

Source DB:  PubMed          Journal:  Ann Otol Rhinol Laryngol        ISSN: 0003-4894            Impact factor:   1.547


  3 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

2.  Identification of ANLN as a new likely pathogenic gene of branchio-otic syndrome in a three-generation Chinese family.

Authors:  Lisha Deng; Yuanzhen Liu; Wenjun Xia; Jiongjiong Hu; Zhaoxin Ma
Journal:  Mol Genet Genomic Med       Date:  2018-12-11       Impact factor: 2.183

Review 3.  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
  3 in total

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