Linked Life Data

18553566

Source:http://linkedlifedata.com/resource/pubmed/id/18553566

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
14
pubmed:dateCreated
2008-6-23
pubmed:abstractText
Infantile cortical hyperostosis (Caffey disease) is benign and self-limiting when it presents near or after birth but it is usually lethal when it presents earlier. We present the clinical, ultrasonic, radiographic, and pathologic findings in an instructive case of early onset prenatal cortical hyperostosis. The pregnancy of a 21-year-old woman was medically terminated at 30 weeks of gestation after a diagnosis of severe osteogenesis imperfecta. Prenatal ultrasounds showed short long bones. Postmortem radiographs showed hyperostosis in long bones, ribs and mandible. The affected skeleton showed marked bony sclerosis and ballooning of the diaphyses of the long bones with periosteal sclerosis. A complete autopsy showed characteristic histologic findings of infantile cortical hyperostosis in affected bones. A missense mutation (3040C --> T) in exon 41 the gene encoding the alpha 1 chain of type I collagen was found in fetus pulmonary tissue. Neither the severe form nor the mild form of prenatal cortical hyperostosis were thought to be related to collagen I mutations. Our study indicates that a heterozygous 3040C --> T mutation can also be found in lethal prenatal cortical hyperostosis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1552-4833
pubmed:author
pubmed:copyrightInfo
2008 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:day
15
pubmed:volume
146A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1820-4
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Prenatal cortical hyperostosis with COL1A1 gene mutation.
pubmed:affiliation
Paris Descartes University, INSERM U781, Hôpital Necker, Paris, France. agnes.kamoun@yahoo.fr
pubmed:publicationType
Journal Article, Case Reports