Linked Life Data

10945664

Source:http://linkedlifedata.com/resource/pubmed/id/10945664

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2000-11-22
pubmed:abstractText
Two patients with chromosome 22q11 deletion and cortical dysgenesis (gyral abnormalities) are reported in this study. One had unilateral clubfoot in addition to multiple features suggestive of the Di George syndrome (DGS), and the other presented with leg asymmetry and seizures, with subsequent recognition of the velo-cardio-facial syndrome (VCFS). In each patient, gyral abnormalities were identified in the hemisphere contralateral to the limb abnormality. A wide range of central nervous system abnormalities have been reported in DGS and VCFS, including three prior reports of gyral abnormalities (lissencephaly, microgyria). The 2 patients reported herein strengthen the association between the 22q11 deletion spectrum and cortical dysgenesis, but the underlying pathogenetic mechanism (primary neural migration vs. vascular disruption) remains unclear.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
58
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
64-8
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Cortical dysgenesis in 2 patients with chromosome 22q11 deletion.
pubmed:affiliation
Children's Hospital and Health Center, Department of Pediatrics, University of California, San Diego 92123, USA. lynnembird@aol.com
pubmed:publicationType
Journal Article, Case Reports