Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1997-3-18
pubmed:abstractText
Little is known about the neuropathology of Cornelia de Lange syndrome. We report a unique type of cerebral malformation combined with Cornelia de Lange syndrome in a 5-year-old female child. At autopsy, the optic systems, hypothalamic nuclei, corpus callosum and cerebellar vermis were hypoplastic, and the septum pellucidum, fornix and anterior commissure were rudimentary. The brain had malformative features of septo-optic dysplasia combined with commissural dysplasia and cerebellar vermian hypoplasia. This case suggests an interrelationship between Cornelia de Lange syndrome and midline development of the brain.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0001-6322
pubmed:author
pubmed:issnType
Print
pubmed:volume
92
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
625-30
pubmed:dateRevised
2007-11-9
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Septo-optic dysplasia with cerebellar hypoplasia in Cornelia de Lange syndrome.
pubmed:affiliation
Department of Clinical Neuropathology, Tokyo Metropolitan Institute for Neuroscience, Japan.
pubmed:publicationType
Journal Article, Case Reports