Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1983-11-23
pubmed:abstractText
A 37 year-old female patient with polyostotic fibrous dysplasia (PFD) is described. She presented the typical "café au lait" spots and severe bone involvement including a maxillary osteosarcoma. The father, four sibs, two nephews, two paternal aunts and two paternal first cousins were clinically examined, and seven of them also radiologically evaluated. "Café au lait" spots were found in the father, three sibs, one nephew, one aunt and one first cousin. Although no definite PFD bone lesions, mild radiological abnormalities were found in the father, three sibs and one nephew. These findings were interpreted as the variable expression of a pleiotropic gene. The present observation and three previous familial cases of this entity strongly suggest the existence of a form of PFD determined by an autosomal dominant gene.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
132-9
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1983
pubmed:articleTitle
A probable monogenic form of polyostotic fibrous dysplasia.
pubmed:publicationType
Journal Article, Case Reports