Linked Life Data

3651336

Source:http://linkedlifedata.com/resource/pubmed/id/3651336

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1987-11-20
pubmed:abstractText
Ehlers-Danlos syndrome (EDS) type I was diagnosed in an 18-year-old girl on the basis of marked skin hyperextensibility with generalized loose-jointedness, pigmented paper-tissue scars, and a pronounced tendency to bruising. Her father and one of her sisters showed a similar phenotype. Her mother was normal. Light microscopy of skin biopsies showed large, irregular collagen fibres in the father and daughter, with normal findings in the mother. Electron microscopy of the skin sections revealed a variation in diameter and shape of the collagen fibrils as well as slight dilatation of the rough endoplasmic reticulum of fibroblasts in father and daughter, but normal findings in the mother. Cultured fibroblasts did not show these changes. Measurements of collagen synthesis by fibroblast cultures showed that type III collagen levels were reduced to 50% of normal in the father and daughter, and were normal in the mother. The alpha I (III) proteins had a normal molecular weight, determined by SDS-PAGE electrophoresis. The phenotypes and biochemical results in the family members tested were compatible with autosomal dominant transmission. To our knowledge, this is the first report of a type III collagen deficiency in Ehlers-Danlos syndrome type I. The findings in this family, especially the pronounced bruising tendency, illustrate the heterogeneity within type I EDS.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0007-0963
pubmed:author
pubmed:issnType
Print
pubmed:volume
117
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
89-97
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1987
pubmed:articleTitle
Ehlers-Danlos syndrome type I: a clinical and ultrastructural study of a family with reduced amounts of collagen type III.
pubmed:affiliation
Centre for Medical Genetics, University of Gent, Belgium.
pubmed:publicationType
Journal Article, Case Reports