Linked Life Data

9561013

Source:http://linkedlifedata.com/resource/pubmed/id/9561013

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1998-5-11
pubmed:abstractText
Although individual bone dysplasias are rare, as a group they are relatively common and have a significant effect on morbidity and mortality at all ages. In this brief introduction, radiologic classification, diagnosis and differential diagnosis are given. The radiologic diagnosis is emphasized, since distinction among the various bone dysplasias is based largely on radiographic findings. Prenatal diagnosis relies heavily on high-resolution real-time ultrasonography of the fetus. Precise antenatal ultrasonographic diagnosis of a bone dysplasia may be very difficult; however, accurate differentiation of a lethal versus a nonlethal anomaly is relatively easy. There has been a recent explosion of knowledge about the genetic basis of skeletal dysplasias. Collagen gene mutations have been found to be responsible for osteogenesis imperfecta and many other bone dysplasias. The locations of the genes implicated in achondroplasia and some other chondrodysplasias are now known. Histologic analysis of the growth plate may also provide specific diagnostic features in achondroplasia and other bone dysplasias. A team approach is mandatory for the diagnosis and management of this fascinating and challenging group of diseases.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0846-5371
pubmed:author
pubmed:issnType
Print
pubmed:volume
49
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
105-9
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Bone dysplasias: an introduction.
pubmed:affiliation
Department of Medical Imaging, Montreal Children's Hospital, Montreal, Que. mazomi@mch.mcgill.ca
pubmed:publicationType
Journal Article, Review