Linked Life Data

1415348

Source:http://linkedlifedata.com/resource/pubmed/id/1415348

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1992-11-13
pubmed:abstractText
We report on a woman who was diagnosed with branchio-oto-renal (BOR) syndrome after 2 pregnancies complicated by oligohydramnios due to renal hypoplasia and agenesis. Both babies died neonatally of pulmonary hypoplasia. Histopathology of the temporal bones of the second child showed marked immaturity of the middle ear cleft, ossicles, facial nerve and canal, and cochlear nerve. Maternal renal ultrasound study was normal although intravenous pyelography indicated renal hypoplasia. The frequency of BOR syndrome among cases of recurrent fetal renal hypoplasia/dysplasia or agenesis is unknown, and parental renal ultrasonography may not identify a heritable renal defect. Investigations should include a family history, and examination of relatives to look for preauricular pits, lacrimal duct stenosis, and branchial fistulae and/or cysts. Hearing studies and IVP may be indicated.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
43
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
970-5
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome.
pubmed:affiliation
Department of Pediatrics, Montreal Children's Hospital, McGill University, Quebec, Canada.
pubmed:publicationType
Journal Article, Case Reports