Linked Life Data

3422850

Source:http://linkedlifedata.com/resource/pubmed/id/3422850

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1988-1-26
pubmed:abstractText
We examined a father and son affected by Ehlers-Danlos syndrome type II. Both patients had micrognathia together with ligament and skin hyperlaxity. The son exhibited complete cleft palate. Ultrastructural studies revealed abnormal collagen fibrils in the dermis of both patients. In the child the most striking alterations consisted of lateral fusion of an enormous number of collagen fibrils giving rise to huge polymorphic collagen masses. In the father's dermis the great majority of collagen fibrils appeared normal; however, lateral fusion of fibrils together with local abnormal collagen aggregation were occasionally seen. In both patients the dermal elastic network was well developed and elastic fibers appeared normal.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0736-8046
pubmed:author
pubmed:issnType
Print
pubmed:volume
4
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
197-204
pubmed:dateRevised
2009-3-3
pubmed:meshHeading
pubmed:year
1987
pubmed:articleTitle
Familial Ehlers-Danlos syndrome type II: abnormal fibrillogenesis of dermal collagen.
pubmed:affiliation
Division of Pediatric Neurology, University of Catania, Italy.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't