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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:dateCreated |
1988-7-5
|
| pubmed:abstractText |
"Geleophysic" dysplasia is a rare autosomal recessive disorder, probably of glycoprotein metabolism, which shares some clinical and roentgenological manifestations with acromicric dysplasia. We report the clinical, radiological, and pathological data of a patient with the typical picture of progressive growth delay; mild facial anomalies; small, abnormal hands; hepatosplenomegaly; and progressive cardiac valvular lesions. Electron microscopy of a liver biopsy showed similar and additional changes to those published previously.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
1040-3787
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
3
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
181-9
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading | |
| pubmed:year |
1987
|
| pubmed:articleTitle |
Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage.
|
| pubmed:affiliation |
Birth Defects Unit, Children's Hospital, Camperdown, Sydney, Australia.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|