Linked Life Data

10636449

Source:http://linkedlifedata.com/resource/pubmed/id/10636449

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2000-2-23
pubmed:abstractText
Defined in 1975, branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder consisting of branchial arch anomalies, hearing loss, and urinary tract malformations. It is the prototype of the non-chromosomal syndromes that have branchial arch anomalies as major clinical manifestations: BOR, branchio-otic (BO), branchio-otic-facial (BOF), and Townes-Brock syndromes. Subsequently, several clinical manifestations have expanded its phenotype. Retrospective analysis of 31020 families evaluated between January 2, 1982 and December 31, 1996 at the genetic clinics of the University of South Florida, showed seven probands with BOR/?BOR syndrome. Four of the probands and affected relatives had manifestations that further expanded the phenotype: gustatory lacrimation, hypospadias, imperforate anus, osteosclerosis, microcephaly, hypodontia, congenital vocal cord paresis, and congenital incomplete fixation of the transverse colon. Thus, BOR/ ?BOR syndrome appears to be a clinically and genetically heterogeneous multiorgan/system entity that manifests itself predominantly during organogenesis. Clinicians and researchers alike should be cognizant of the expanded phenotype and heterogeneity, while in the DNA laboratories the latter will be sorted out.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
56
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
306-12
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
New' manifestations of BOR syndrome.
pubmed:affiliation
Department of Pediatrics, University of South Florida, Tampa 33617-3451, USA.
pubmed:publicationType
Journal Article, Case Reports