Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
1992-12-31
pubmed:abstractText
We described a Mexican family whose parents were consanguineous. Therefore two children were affected by a progressive arthropathy with deformity in all finger joints, restricted joint mobility and broad major joints. This condition was diagnosed like atypical juvenile rheumatoid arthritis (JRA) because the test for serum rheumatoid factors and antibodies were negative and failed to respond to anti-rheumatoid treatment. However their radiographic studies showed the spine with universal platyspondyly, enlargement epiphyses of the hands, the absence of destructive and the presence of the dysplastic bone changes. These manifestations permit us to do the diagnosis of spondyloepiphyseal dysplasia tarda with progressive arthropathy. In this report we suggest that a complete radiologic study of the patient will allowed to diagnosis this hereditary autosomal recessive entity; likewise it will let us differ of JRA and others polyarticular conditions of childhood.
pubmed:language
spa
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0539-6115
pubmed:author
pubmed:issnType
Print
pubmed:volume
49
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
678-82
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
[Spondyloepiphyseal dysplasia tarda with progressive arthropathy: 2 siblings affected].
pubmed:affiliation
Departmento de Investigación en Genética Humana, Instituto Nacional de Pediatría, México, D.F.
pubmed:publicationType
Journal Article, English Abstract, Case Reports