Linked Life Data

14667078

Source:http://linkedlifedata.com/resource/pubmed/id/14667078

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2003-12-11
pubmed:abstractText
Kabuki syndrome is a dysmorphogenic syndrome which has been reported in over 300 patients since it was first described in Japan in 1981. In addition to its cardinal features (typical facies, mild-to-moderate learning disability, short stature, skeletal anomalies, and dermatoglyphic abnormalities with persistent foetal fingerpads), neurological anomalies are frequently reported, including epilepsy in 8% of those with the syndrome. We present here a 22-year-old white female patient with refractory partial epilepsy, Kabuki syndrome, and bilateral perisylvian polymicrogyria on MRI: the first reported case of this association. The aetiology of the syndrome, including the diverse genetic changes recognized, is then discussed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0012-1622
pubmed:author
pubmed:issnType
Print
pubmed:volume
45
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
841-3
pubmed:dateRevised
2009-11-11
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome.
pubmed:affiliation
Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, UK.
pubmed:publicationType
Journal Article, Case Reports