Linked Life Data

1418874

Source:http://linkedlifedata.com/resource/pubmed/id/1418874

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
1992-12-9
pubmed:abstractText
Marchesani syndrome consists of short statue, small spherical lens, glaucoma and brachydactyly, which are manifestations of hyperplastic connective tissue disease in systemic organs of mesodermal origin (Marchesani 1939). Among nearly 200 cases of Marchesani syndrome reported in the ophthalmology field, none has shown cardiac manifestations which typically characterize Marfan syndrome caused by hypoplastic connective tissue disorders. We experienced 2 cases which met the diagnosis of Marchesani syndrome and yet showed annuloaortic ectasia and mitral valve prolapse. A 30-year-old man and a 26-year-old woman who are siblings suffered from manifested brachydactyly, spherophakia, glaucoma and cardiac involvements. Their parents are in consanguinity. These unprecedented cases with mixed manifestations provide the evidence of possible gene-crossing between these 2 dystrophic mesodermal disorders.
pubmed:language
jpn
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:author
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
149-57; discussion 158
pubmed:dateRevised
2008-2-26
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
[A family of Marchesani syndrome with mitral valve prolapse and anuloaortic ectasia].
pubmed:affiliation
Department of Internal Medicine, Tokyo Medical & Dental University.
pubmed:publicationType
Journal Article, English Abstract, Case Reports