Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2000-9-26
pubmed:abstractText
The case of a 27-year-old female patient with tricho-rhino-phalangeal (TRP) type I syndrome is reported. The patient demonstrated the classical features of slowly growing hair, a bulbous nose and brachydactyly with swelling at the interphalangeal joints, but in addition showed some of the less common manifestations such as supernumerary teeth and prognathism. To the authors' knowledge this is the first reported case in which modelling abnormalities of the proximal humerus mirror those seen in the femoral head. This adds weight to the argument that the skeletal abnormalities in TRP are part of a generalized bone dysplasia.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0004-8461
pubmed:author
pubmed:issnType
Print
pubmed:volume
44
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
325-7
pubmed:dateRevised
2009-11-11
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Abnormal modelling of the humeral head in the tricho-rhino-phalangeal syndrome: a new radiological observation.
pubmed:affiliation
Royal Belfast Hospital for Sick Children, Northern Ireland, UK. anne.paterson@royalhospitals.n-i.nhs.uk
pubmed:publicationType
Journal Article, Case Reports