Linked Life Data

8280620

Source:http://linkedlifedata.com/resource/pubmed/id/8280620

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1994-2-15
pubmed:abstractText
We observed macrothrombocytopenia with leucocyte inclusions in 10 out of 14 members of a four-generation family. Morphological features of leucocyte inclusions and the presence of Alport-related symptoms supported the diagnosis of Fechtner syndrome. Compared to the two previously reported Fechtner families, our kindred showed reduced expression of Alport manifestations. These, in members aged less than 50, were represented by clinically silent ocular abnormalities. Due to the frequent non-recognition of macrothrombocytopenia. Fechtner variants with low penetrance might be difficult to diagnose. In addition, Sebastian syndrome, recently distinguished from Fechtner disease in lacking Alport manifestations, might be one of these variants.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0007-1048
pubmed:author
pubmed:issnType
Print
pubmed:volume
85
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
423-6
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Fechtner syndrome: report of a third family and literature review.
pubmed:affiliation
Research Centre on Pathophysiology of Haemostasis, Catholic University of Medicine, Rome, Italy.
pubmed:publicationType
Journal Article, Case Reports