Linked Life Data

8728690

Source:http://linkedlifedata.com/resource/pubmed/id/8728690

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1996-10-10
pubmed:abstractText
The features of a child with osteogenesis imperfecta type III (OI III) resulting from the heterozygous substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen were studied. He was born at term with the clinical features of severe OI, including deep grey-blue sclerae. He had severe osteopenia and all long bones were smaller than normal with cortical thinning, metaphyseal expansion, poor metaphyseal modelling, and multiple fractures. However, the vertebrae, pelvis, and shoulder girdle were of normal shape and there were few rib fractures. Histological examination of the calvarium and tibial shaft showed woven bone without lamellar bone or Haversian systems. The shafts of the long bones were widened owing to repeated fractures. Progressive enlargement of the calvarium occurred between 3 and 4.5 months of age owing to bilateral chronic subdural haematomata and a large arachnoid cyst in the Sylvian fissure. The cyst was probably developmental in origin while the subdural collections were probably the result of perinatal skull trauma. The cyst and the subdural collections resolved following drainage but ventricular dilatation with normal cerebrospinal fluid pressure followed. The proband is the first reported case of OI with a glycine substitution by alanine in the pro alpha 2(I) chain of type I procollagen.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/8728690-1394251, http://linkedlifedata.com/resource/pubmed/commentcorrection/8728690-1430458, http://linkedlifedata.com/resource/pubmed/commentcorrection/8728690-1613761, http://linkedlifedata.com/resource/pubmed/commentcorrection/8728690-1863926, http://linkedlifedata.com/resource/pubmed/commentcorrection/8728690-1895312, http://linkedlifedata.com/resource/pubmed/commentcorrection/8728690-2325102, http://linkedlifedata.com/resource/pubmed/commentcorrection/8728690-2777764, http://linkedlifedata.com/resource/pubmed/commentcorrection/8728690-3362330, http://linkedlifedata.com/resource/pubmed/commentcorrection/8728690-3953678, http://linkedlifedata.com/resource/pubmed/commentcorrection/8728690-458828, http://linkedlifedata.com/resource/pubmed/commentcorrection/8728690-5578137, http://linkedlifedata.com/resource/pubmed/commentcorrection/8728690-7520724, http://linkedlifedata.com/resource/pubmed/commentcorrection/8728690-7679635, http://linkedlifedata.com/resource/pubmed/commentcorrection/8728690-7749416, http://linkedlifedata.com/resource/pubmed/commentcorrection/8728690-8182080
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0022-2593
pubmed:author
pubmed:issnType
Print
pubmed:volume
33
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
193-6
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen.
pubmed:affiliation
Centre for the Study of Heritable Connective Tissue Disorders, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't