Linked Life Data

17589361

Source:http://linkedlifedata.com/resource/pubmed/id/17589361

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2007-10-16
pubmed:abstractText
Hereditary multiple exostosis (HME) is an autosomal dominant condition resulting predominantly from mutations in the exostosin 1 (EXT1) and exostosin 2 (EXT2) genes. We asked two questions in our study: first, what is the anatomic burden of subjects with HME; second, is there a difference in anatomic burden in subjects with EXT 1 versus EXT 2. The anatomic burden experienced by HME patients was defined according to three domains: (1) lesion quality; (2) limb malalignment and deformity; and (3) limb segment lengths and percentile height. Seventy-nine subjects with HME were included in this study. Of these 79 phenotypes were completed. Forty-eight genotypes were confirmed leaving 48 complete genotype-phenotype profiles for analysis. Analysis of the coding and flanking intronic regions of EXT1 and EXT2 was performed in each patient by direct sequencing of PCR-amplified genomic DNA. All three domains of anatomic burden showed a wide range of presentation in the HME study sample. More lesions and greater tendency to flat bone occurrence was associated with EXT1. EXT1 patients were shorter. All limb segments tended to be shorter for EXT1 subjects. EXT1 subjects showed more anatomic burden with respect to lesion quality and height.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0009-921X
pubmed:author
pubmed:issnType
Print
pubmed:volume
462
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
73-9
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Evaluation of the anatomic burden of patients with hereditary multiple exostoses.
pubmed:affiliation
University of British Columbia, Faculty of Medicine, Division of Pediatric Orthopaedics, Department of Orthopaedics, British Columbia Children's Hospital, Vancouver, BC, Canada. calvarez@cw.bc.ca
pubmed:publicationType
Journal Article, Comparative Study