Linked Life Data

12417777

Source:http://linkedlifedata.com/resource/pubmed/id/12417777

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2002-11-5
pubmed:abstractText
Pallister-Killian syndrome is a rare disorder characterised by a specific combination of anatomic anomalies, mental retardation and lack of speech acquisition due to tetrasomy 12p. Hearing loss does not seem to be characteristic for this syndrome, although it was reported in several cases. We present the case of a girl first seen in our department at the age of 6 months. A severe sensory hearing loss was confirmed by subjective and objective audiometry. The child was successfully equipped with hearing aids. In the literature almost all children with Pallister-Killian syndrome are described as not developing verbal speech. Surprisingly their hearing abilities were not examined systematically. We advise audiological testing of children with Pallister-Killian syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0301-1569
pubmed:author
pubmed:copyrightInfo
Copyright 2002 S. Karger AG, Basel
pubmed:issnType
Print
pubmed:volume
64
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
343-5
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:articleTitle
Severe hearing loss in Pallister-Killian syndrome.
pubmed:affiliation
Department of Phoniatrics and Pedaudiology, University of Erlangen-Nuremberg, Bohlenplatz 21, D-91054 Erlangen, Germany. Maria.Schuster@phoni-imed.uni-erlangen.de
pubmed:publicationType
Journal Article, Case Reports