Linked Life Data

11139890

Source:http://linkedlifedata.com/resource/pubmed/id/11139890

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
2001-1-3
pubmed:abstractText
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.
pubmed:language
ger
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0017-6192
pubmed:author
pubmed:issnType
Print
pubmed:volume
48
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
839-42
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
[Branchio-oto-renal syndrome (BOR syndrome). A dysplasia syndrome with branchial abnormalities, deafness and kidney disease].
pubmed:affiliation
HNO-Praxis, Walter-Oertel-Strasse 1b, 09112 Chemnitz.
pubmed:publicationType
Journal Article, English Abstract, Case Reports