Linked Life Data

7638114

Source:http://linkedlifedata.com/resource/pubmed/id/7638114

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
18
pubmed:dateCreated
1995-9-11
pubmed:abstractText
Branchio-oto-renal syndrome is an inborn disease of autosomal dominant transmission and variable expression. The syndrome associates ear pits, branchial cleft fistulas or cysts, deafness and renal anomalies heavily compromising prognosis. We report four adults (2 males, 2 females) in three different families with branchio-oto-renal syndrome. All 4 probands were seen for renal failure, with hematuria in 2 and proteinuria in the 2 others. Among the 62 family members examined 19 had at least one sign of branchio-oto-renal syndrome. Four pregnancies were followed during the course of the study, only one reached term. The frequency of branchio-oto-renal syndrome is probably underestimated. Prevalence has been estimated at 1/40,000 births. It accounts for 2% of the cases of severe deafness in children. Neck and ear morphology should therefore be carefully examined in patients with renal or urinary tract dysplasia. Women with a mild form of the disease with moderate renal failure may give birth to an infant with very severe renal failure leading to death either in infancy or in utero due to severe renal agenesia or hypoplasia.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0755-4982
pubmed:author
pubmed:issnType
Print
pubmed:day
20
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
842-4
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
[Branchio-oto-renal syndrome. 4 cases in three families].
pubmed:affiliation
Clinique néphrologique, Centre d'Epuration extra-rénale Michel Basse, Aressy.
pubmed:publicationType
Journal Article, English Abstract, Case Reports