Linked Life Data

8641541

Source:http://linkedlifedata.com/resource/pubmed/id/8641541

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1996-7-16
pubmed:abstractText
The authors report a case of X-linked hydrocephalus which presented as a destructive porencephaly. There was asymmetric dilatation of the ventricles of prenatal onset, and neuro-imagining studies were suggestive of infection or haemorrhage. The child was profoundly handicapped but did not have adducted thumbs. Two of his mother's brothers had been stillborn, and postmortem reports revealed that the diagnosis had been isolated hydrocephalus and not spina bifida as reported by the family. Despite serial ultrasound scans, recurrence of X-linked hydrocephalus in the mother's subsequent pregnancy was not detected until 26 weeks gestation, when the ventricles became grossly dilated. The diagnosis was confirmed in this family by identification of mutation within the L1CAM gene.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0012-1622
pubmed:author
pubmed:issnType
Print
pubmed:volume
38
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
359-63
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
X-linked hydrocephalus masquerading as spina bifida and destructive porencephaly in successive generations in one family.
pubmed:affiliation
Department of Clinical Genetics, Western General Hospital, Edinburgh, UK.
pubmed:publicationType
Journal Article, Case Reports