Linked Life Data

18546327

Source:http://linkedlifedata.com/resource/pubmed/id/18546327

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
13
pubmed:dateCreated
2008-6-23
pubmed:abstractText
A multilayered patella is a characteristic radiographic finding of recessive multiple epiphyseal dysplasia (rMED) caused by DTDST mutations. However it has been recently reported in a dominant MED case with a COL9A2 mutation. We report on a new radiographic patellar finding in a patient with pseudoachondroplasia and a heterozygous COMP mutation. It is similar to the radiographic appearance of fusing multilayered patellae in rMED cases. This led us to search the International Skeletal Dysplasia Registry for similar abnormalities. We did not observe this finding in other skeletal dysplasias or other pseudoachondroplasia cases. However we found an accessory ossification center of the patella in another pseudoachondroplasia case. Thus, we hypothesize that variable defects of cartilage extracellular matrix can result in similar abnormal patellar ossifications, and emphasize the importance of a lateral knee radiograph in patients with the pseudoachondroplasia-MED bone dysplasia group of disorders.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1552-4833
pubmed:author
pubmed:copyrightInfo
(c) 2008 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:day
1
pubmed:volume
146A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1682-6
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.
pubmed:affiliation
Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA. nithiwat_v@hotmail.com
pubmed:publicationType
Journal Article, Case Reports, Research Support, N.I.H., Extramural