Linked Life Data

6435070

Source:http://linkedlifedata.com/resource/pubmed/id/6435070

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1984-11-15
pubmed:abstractText
The branchio-oto-renal syndrome, first defined in 1976, is an autosomal dominant disorder characterized by anomalies of the external, middle, and inner ear in association with preauricular sinuses, branchial cleft anomalies, and varying degrees of renal dysplasia, including aplasia. Less frequently expressed phenotypic abnormalities include lacrimal duct aplasia and the stigmata of renal dysgenesis known as Potter facies. Although the precise incidence of the disorder is unknown, it may be more common than is generally appreciated and appears to be distinct from other autosomal dominant otobranchial syndromes. Features of the syndrome expressed in three members of a family are fully illustrated, and other reported cases are compared with these to emphasize the importance of prompt, comprehensive otologic, head and neck, uroradiologic, and genetic evaluation and management.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0194-5998
pubmed:author
pubmed:issnType
Print
pubmed:volume
92
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
468-75
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1984
pubmed:articleTitle
Clinical aspects of the branchio-oto-renal syndrome.
pubmed:publicationType
Journal Article