Linked Life Data

1479790

Source:http://linkedlifedata.com/resource/pubmed/id/1479790

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1993-2-5
pubmed:abstractText
The condition with blepharophimosis, ptosis, epicanthus inversus and telecanthus is reported in one family over five generations. The syndrome is transmitted as an autosomal-dominant characteristic with a very high penetrance and expressivity, preferentially affecting and being transmitted by males. Affected females were infertile. There were no other accompanying systemic disorders. A three-year-old boy, who develops deprivation amblyopia, was first treated by levator attachment according to Friedenwald's method. Medical canthal surgery followed two years later to correct the epicanthus and telecanthus. A good clinical result was achieved by performing Mustardè's Z-plasty and shortening of the medial canthal ligament. Alternative techniques are reviewed briefly.
pubmed:commentsCorrections
pubmed:language
ger
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0023-2165
pubmed:author
pubmed:issnType
Print
pubmed:volume
201
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
325-9
pubmed:dateRevised
2009-11-11
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
[A family with blepharophimosis, ptosis, epicanthus inversus and telecanthus. Occurrence of the hereditary marker in five generations].
pubmed:affiliation
Augenklinik, Medizinischen Fakultät der RWTH Aachen.
pubmed:publicationType
Journal Article, English Abstract, Case Reports