Linked Life Data

15106290

Source:http://linkedlifedata.com/resource/pubmed/id/15106290

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2004-4-26
pubmed:abstractText
Rieger syndrome is a dysembryogenetic disease in which labyrinthic damage can be associated with other genetic anomalies. The case presented here is of a patient who has bilateral dysgenesis of the iris, with bulbar atrophy and dyscoria. The patient does not present any malformation of the craniofacial structures, of the periumbilical skin, or of the skeletal bones. The case is, therefore, a variant of the Rieger syndrome labeled Axenfeld-Rieger syndrome. The patient reported a progressive sensation of auricular fullness, and liminal audiometry revealed a sensorineural hearing loss. Computed tomography scanning of the temporal bone revealed a bilateral dysmorphism of the acoustic channels. The presence of a bilateral cochlcopathy in a patient suffering from the Axenfeld-Rieger syndrome could be the expression of a genetic "disorder." We cannot exclude the possibility also that this genetic anomaly is responsible for the bony dysmorphism of the inner ear channels shown by the computed tomography scan of the temporal bone.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0946-5448
pubmed:author
pubmed:issnType
Print
pubmed:volume
9
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
134-7
pubmed:dateRevised
2005-11-17
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Rieger syndrome: case report.
pubmed:affiliation
Department of Medical-Surgical Specialties, Ear, Nose, and Throat Section, Padua University, Padua, Italy.
pubmed:publicationType
Journal Article, Case Reports