Linked Life Data

11115042

Source:http://linkedlifedata.com/resource/pubmed/id/11115042

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2000-12-20
pubmed:abstractText
Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome comprising unilateral cranial lipomas, lipodermoids of the eye and brain abnormalities. A 3-year-old boy who presented at birth with a scalp lipoma and an ipsilateral epibulbar lipodermoid is described. Infantile spasms developed at 9 months of age and cerebral imaging showed thickened and calcified cortex at the right occiput and hemiatrophy of the right hemisphere. These features were consistent with ECCL. Most children with ECCL have significant developmental delay, but we have found that control of seizures was associated with a significant improvement in developmental outcome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1034-4810
pubmed:author
pubmed:issnType
Print
pubmed:volume
36
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
603-5
pubmed:dateRevised
2007-9-24
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome.
pubmed:affiliation
Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Victoria, Australia. amord@cryptic.rch.unimelb.edu.au
pubmed:publicationType
Journal Article, Case Reports