Linked Life Data

20610129

Source:http://linkedlifedata.com/resource/pubmed/id/20610129

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2010-7-8
pubmed:abstractText
Kabuki syndrome is a rare congenital disorder first described in 1981. Case reports indicate multiple congenital abnormalities: skeletal anomalies, cognitive impairment, characteristic facial appearance, and peculiar dermatoglyphic patterns. We describe a patient with Kabuki syndrome who presented with physiologic tremor in her distal upper extremities. Cranial magnetic resonance imaging revealed symmetric T(2)-hyperintense lesions with mildly restricted diffusion in the lentiform nuclei, red nuclei, and dentate nuclei bilaterally. Although multiple abnormalities of the central nervous system were reported previously in Kabuki syndrome, this patient is the first, to the best of our knowledge, with the unique findings that we observed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1873-5150
pubmed:author
pubmed:copyrightInfo
Copyright 2010 Elsevier Inc. All rights reserved.
pubmed:issnType
Electronic
pubmed:volume
43
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
148-50
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Tremor and deep brain nuclei hyperintensities in Kabuki syndrome.
pubmed:affiliation
Department of Neurology, Georgetown University Hospital, Washington, DC, USA.
pubmed:publicationType
Journal Article, Case Reports