Linked Life Data

2683946

Source:http://linkedlifedata.com/resource/pubmed/id/2683946

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
1989-12-12
pubmed:abstractText
We report two exceedingly unusual and severe cases of Marfan syndrome with neonatal manifestations. Clinical features were caricatural. The skin was of the cutis laxa type. Both infants died shortly after birth as a result of severe cardiovascular lesions. Histologic examination of the aortic media confirmed the diagnosis. Because this genetic connective tissue dysplasia is inherited on an autosomal dominant basis with strong penetrance, and because in both instances the two parents had a negative family history, a dominant mutation seems likely in our cases and prompted us to be optimistic when giving genetic counseling. We point out the characteristic features of these exceptional early forms and describe the results of a detailed histologic examination of the skin that completes data from the literature.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0066-2097
pubmed:author
pubmed:issnType
Print
pubmed:volume
36
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
465-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1989
pubmed:articleTitle
[Marfan disease presenting in neonates with rapid cardio-vascular failure. Apropos of 2 cases].
pubmed:publicationType
Journal Article, English Abstract, Review, Case Reports