These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [Branchio-oto-renal syndrome (BOR syndrome). A dysplasia syndrome with branchial abnormalities, deafness and kidney disease].
    Author: Holzmüller M.
    Journal: HNO; 2000 Nov; 48(11):839-42. PubMed ID: 11139890.
    Abstract:
    The branchio-oto-renal syndrome (BOR syndrome) is characterized by auricular abnormalities, lateral cervical fistulas and preauricular tags. The hearing impairment may be a conductive, a sensorineural or a mixed hearing loss. The renal disease is oligomeganephronia, a bilateral, congenital renal abnormality with reduced numbers of nephrons. The BOR syndrome is an autosomal-dominant disease. An 8-year-old girl with preauricular tags, cervical fistulas and auricular abnormalities is reported upon. She has a mixed hearing loss and anomalies in the vestibular system. Renal disorders are not diagnosed. The BOR syndrome is a disorder with branchial, otologic and renal manifestations. These are usually incomplete. Less common anomalies that occur include facial nerve paralysis, lacrimal duct stenosis and other auricular abnormalities. The syndrome shows a highly variable expressivity, so that severe renal anomalies may be the limiting factor. Malformations in the head region may undergo cosmetic surgery depending on their grade and behaviour. After audiometric evaluation the hearing disorder can be well-treated with hearing aids.
    [Abstract] [Full Text] [Related] [New Search]