Linked Life Data

3877103

Source:http://linkedlifedata.com/resource/pubmed/id/3877103

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
1985-12-12
pubmed:abstractText
Hemifacial microsomia (HFM) and the branchio-oto-renal syndrome (BOR) are both associated with malformations of the external ears; preauricular tags, pits, or sinuses; and conductive or mixed hearing loss. Other overlapping features have been described, including cervical appendages containing cartilage in HFM, and facial paresis in BOR; however, the significance of these findings has not been discussed by previous authors. The purpose of this paper is to describe four additional propositi with overlapping features of BOR and HFM. In two cases there is a positive family history of either first and second branchial arch anomalies or malformation of the kidney. Two cases appear to be sporadic. The overlapping clinical features suggest that in some families HFM may constitute a component toward the severe end of the spectrum of the autosomal dominant BOR syndrome. The empiric recurrence risk for HFM was 3% in one study. If our interpretation of these reported cases is correct, genetic recurrence risks for individuals in these families may fall in the range of an autosomal dominant condition. Since expression of both conditions varies widely, and minor manifestations may be overlooked, the importance of careful evaluation of first- and second-degree relatives is emphasized.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0890-6661
pubmed:author
pubmed:issnType
Print
pubmed:volume
1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
287-95
pubmed:dateRevised
2008-2-29
pubmed:meshHeading
pubmed:year
1985
pubmed:articleTitle
Hemifacial microsomia and the branchio-oto-renal syndrome.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports