Linked Life Data

15552564

Source:http://linkedlifedata.com/resource/pubmed/id/15552564

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2004-11-19
pubmed:abstractText
Pseudoachondroplasia (PSACH) is associated with mutations in the cartilage oligomeric matrix protein (COMP) gene and the clinical characteristics include short stature, deformities of the extremities involving the epiphyses and metaphyses, early onset arthritis, and ligament laxity. PSACH has been considered a rhizomelic form of dwarfism. So far no previous report has described mesomelic shortening of the limbs in PSACH. We reviewed nine patients with a diagnosis of PSACH based on clinical and radiographic examination and mutation analysis of the COMP gene. The mean height in the adults was 116 cm. All patients showed mesomelic dwarfism. The average ratios of radial length to humeral length and tibial length to femoral length were 0.62 and 0.63, respectively. The tibia and the radius showed more severe bony deformity than the femur and humerus. The degree of short stature was related to the site of the mutation in the COMP gene, but there was no correlation between bony deformity and height or gene mutation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1060-152X
pubmed:author
pubmed:issnType
Print
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
340-4
pubmed:dateRevised
2011-10-14
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Mesomelic dwarfism in pseudoachondroplasia.
pubmed:affiliation
Department of Orthopaedic Surgery, Korea University Guro Hospital, Seoul, Korea.
pubmed:publicationType
Journal Article, Comparative Study