Linked Life Data

7619422

Source:http://linkedlifedata.com/resource/pubmed/id/7619422

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
1995-8-30
pubmed:abstractText
Branchio-oto-renal (BOR) syndrome is a rare, autosomal dominant genetic disorder involving branchial cleft and renal anomalies, hearing loss, and other otologic manifestations. We report a case of a family with three generations of branchial cleft anomalies and otologic anomalies with hearing loss. A review of the literature, classic clinical presentations, associated findings, and the differential diagnosis of BOR syndrome is presented. Due to BOR syndrome's variability of both penetrance and expression and a high incidence of renal the practicing otolaryngologist should consider BOR syndrome when evaluating hearing loss and branchial cleft remnants in any child.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0886-4470
pubmed:author
pubmed:issnType
Print
pubmed:volume
121
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
922-5
pubmed:dateRevised
2006-3-28
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
Branchio-oto-renal syndrome.
pubmed:affiliation
Department of Otolaryngology, Geisinger Medical Center, Danville, Pa, USA.
pubmed:publicationType
Journal Article, Case Reports