Linked Life Data

9508073

Source:http://linkedlifedata.com/resource/pubmed/id/9508073

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1998-4-21
pubmed:abstractText
We describe the clinical characteristics of a provisionally unique form of distal arthrogryposis. The anomalies observed in affected individuals are more severe than those in distal arthrogryposis type 1 and are similar to but less dramatic than those described in distal arthrogryposis type 2A (Freeman-Sheldon syndrome). Consequently, we label this disorder distal arthrogryposis type 2B (DA2B). Affected individuals have vertical talus, ulnar deviation, severe camptodactyly, and a distinctive face characterized by a triangular shape, prominent nasolabial folds, downslanting palpebral fissures, small mouth, and a prominent chin. A gene for DA2B maps to chromosome 11p15.5. We suggest that DA2B is partly responsible for the clinical variability observed in Freeman-Sheldon syndrome.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:day
26
pubmed:volume
76
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
93-8
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B).
pubmed:affiliation
Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112-5330, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't