Linked Life Data

15770129

Source:http://linkedlifedata.com/resource/pubmed/id/15770129

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2005-3-16
pubmed:abstractText
The neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. The relative infrequency of this syndrome hampers the clinical diagnosis at an early age. This report describes the progress of a 4-year-old boy with neonatal Marfan syndrome and severe cardiac involvement. Molecular genetic studies showed a de novo point mutation in exon 29 of the FBN1 gene located on chromosome 15q21.1. This mutation is in the classic region for nMFS and has not been reported before. The literature is reviewed. We stress the importance of early recognition of the phenotype in order to anticipate the development of cardiac abnormalities.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0962-8827
pubmed:author
pubmed:issnType
Print
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
81-4
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Neonatal Marfan syndrome: clinical report and review of the literature.
pubmed:affiliation
Department of Paediatric Cardiology, University Hospital Maastricht, Maastricht University, Maastricht, The Netherlands.
pubmed:publicationType
Journal Article, Review, Case Reports