Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1989-1-4
pubmed:abstractText
A 32-wk-gestation female with type II achondrogenesis-hypochondrogenesis has been studied. The clinical features were typical, and radiographs revealed short ribs, hypoplastic ilia, absence of ossification of sacrum, pubis, ischia, tali, calcanei, and many vertebral bodies; the long bones were short with mild metaphyseal flaring. The femoral cylinder index was 6.3. Comparison with previous cases placed the patient toward the mild end of the achondrogenesis-hypochondrogenesis spectrum (Whitley-Gorlin prototype IV). Light microscopy revealed hypercellular cartilage with decreased matrix traversed by numerous fibrous vascular canals. The growth plate was markedly abnormal. Ultrastructural studies revealed prominently dilated rough endoplasmic reticulum containing a fine granular material with occasional fibrils in all chondrocytes. Immunohistologic studies indicated irregular large areas of cartilage matrix staining with monoclonal antibody to human type III collagen. The relative intensity of matrix staining for type II collagen appeared diminished. More striking, however, were intense focal accumulations of type II collagen within small rounded perinuclear structures of most chondrocytes but not other cell types. These results strongly suggest intracellular retention of type II collagen within vacuolar structures, probably within the dilated rough endoplasmic reticulum observed in all chondrocytes by electron microscopy (EM), and imply the presence of an abnormal, poorly secreted type II collagen molecule. Biochemical studies (see companion paper) suggest that this patient had a new dominant lethal disorder caused by a structural abnormality of type II collagen.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-1261128, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-2445760, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-3195588, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-3275766, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-3309860, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-3717210, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-3752081, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-4080742, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-4218770, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-4424980, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-448481, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-4633363, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-4710446, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-474720, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-4768245, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-4825916, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-5582025, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-5962951, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-6156200, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-6205818, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-6295695, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-6628450, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-6878687, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-7036745, http://linkedlifedata.com/resource/pubmed/commentcorrection/3057886-7469190
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
43
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
894-903
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies.
pubmed:affiliation
Shriners Hospital for Crippled Children, Portland, OR 97201.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't