Linked Life Data

12833411

Source:http://linkedlifedata.com/resource/pubmed/id/12833411

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2003-6-30
pubmed:abstractText
Clinical, pathological, and X-ray findings of two brothers with features resembling congenital intrauterine infection-like syndrome are presented. Extensive screening for intrauterine infection was performed. Nevertheless all confirmatory tests were normal. Both brothers showed extensive intra- and extra-cranial calcifications, thrombocytopenia, a septum pellucidum cyst, one-sided paresis of the diaphragm, and metaphyseal changes on X-ray scans resembling intrauterine infection. Within the first days of life, they developed seizures and died from severe cerebral hemorrhage. The MRI scan of the brain showed cerebellar hypoplasia in one of the boys, while the cerebellum had normal size in the other. No indication of a metabolic disorder, especially in calcium metabolism, was identified. Due to the clinical overlap with Hoyeraal-Hreidarsson syndrome, mutations in the DKC1 gene (Xq28) and the hTR gene (RNA component of telomerase on chromosome 3q) have been excluded. The parents are non-consanguineous and further family history was unremarkable. The findings in these boys overlap with features described in congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome).
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1552-4825
pubmed:author
pubmed:copyrightInfo
Copyright 2003 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
120A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
261-5
pubmed:dateRevised
2008-5-21
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome).
pubmed:affiliation
Institut für Medizinische Genetik, Medizinische Fakultät Charité, Humboldt Universität zu Berlin, Germany.
pubmed:publicationType
Journal Article, Case Reports