Linked Life Data

9235073

Source:http://linkedlifedata.com/resource/pubmed/id/9235073

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1997-7-28
pubmed:abstractText
A 2 years and 9 months old female patient, with the diagnosis of Weaver syndrome is reported. The proband presents persistent pre and post-natal overgrowth, asynchronic advanced bone age, particular facies, (macrocephaly, ocular hypertelorism, micrognathia, large ears), bilateral widening of the distal femoral metaphysis, bilateral tibia vara, prominent fetal fingerpads, clinodactyly, development delay, low pitched and hoarse cry, nonspecific cortical atrophy, dilation of the ventricles and vermix hypoplasia. The differential diagnosis with other overgrowth syndromes is discussed. The possibility of uniparental disomy and genetic imprinting as the basic genetic defect in the Weaver syndrome is suggested. The patient reported here appears to be the first case in the Venezuelan literature.
pubmed:language
spa
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0535-5133
pubmed:author
pubmed:issnType
Print
pubmed:volume
38
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
9-24
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
[Weaver syndrome. 1st case reported in Venezuela].
pubmed:affiliation
Centro de Microscopía Electrónica, Unidad de Genética, Universidad de Oriente, Estado Bolívar, Venezuela.
pubmed:publicationType
Journal Article, English Abstract, Review, Case Reports