rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
4
|
pubmed:dateCreated |
1975-6-21
|
pubmed:abstractText |
An X-linked syndrome characterized in males by profound mixed deafness, vestibular abnormalities, congenital fixation of the stapes and perilymphatic otorrhea on attempted stapedectomy has been documented in a large Caucasian kindred. Female heterozygotes have similar but milder audiologic abnormalities. The syndrome of congenital fixation of the stapes with perilymphatic gusher may be a relatively common form of X-linked deafness and is an important clinical entity because affected males may be significantly benefited by sound amplification.
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:status |
MEDLINE
|
pubmed:month |
Mar
|
pubmed:issn |
0547-6844
|
pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:volume |
07
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
64-9
|
pubmed:dateRevised |
2006-11-15
|
pubmed:meshHeading |
pubmed-meshheading:5173351-Audiometry,
pubmed-meshheading:5173351-Child,
pubmed-meshheading:5173351-Child, Preschool,
pubmed-meshheading:5173351-Deafness,
pubmed-meshheading:5173351-Ear Ossicles,
pubmed-meshheading:5173351-Female,
pubmed-meshheading:5173351-Genes, Dominant,
pubmed-meshheading:5173351-Heterozygote,
pubmed-meshheading:5173351-Humans,
pubmed-meshheading:5173351-Labyrinthine Fluids,
pubmed-meshheading:5173351-Male,
pubmed-meshheading:5173351-Middle Aged,
pubmed-meshheading:5173351-Pedigree,
pubmed-meshheading:5173351-Perilymph,
pubmed-meshheading:5173351-Sex Chromosomes,
pubmed-meshheading:5173351-Stapes,
pubmed-meshheading:5173351-Syndrome
|
pubmed:year |
1971
|
pubmed:articleTitle |
X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher.
|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, Non-P.H.S.
|