Linked Life Data

18352811

Source:http://linkedlifedata.com/resource/pubmed/id/18352811

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2008-3-20
pubmed:abstractText
Fibrodysplasia ossificans progressiva (FOP) is a rare, autosomal dominant disorder characterized by congenital malformation of the great toes and episodes of soft tissue swelling that lead to progressive heterotopic ossification. The genetic cause of FOP was recently discovered to be a recurrent missense activating mutation in the activin A type I receptor, a bone morphogenetic protein type I receptor in all classically affected individuals worldwide. The authors present a child with the classic features of previously undiagnosed FOP who developed a paraspinal soft-tissue mass after a lumbar puncture for a fever workup. Excision of the mass resulted in a massive inflammatory response leading to progression of heterotopic ossification. Awareness of the classic clinical features of FOP prior to the appearance of heterotopic ossification can prompt early clinical diagnosis and confirmation through genetic testing, thus avoiding interventions that lead to irreversible iatrogenic harm.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1933-0707
pubmed:author
pubmed:issnType
Print
pubmed:volume
1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
91-4
pubmed:dateRevised
2009-2-19
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Lumbar puncture and surgical intervention in a child with undiagnosed fibrodysplasia ossificans progressiva.
pubmed:affiliation
Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
pubmed:publicationType
Journal Article, Case Reports