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Journal Article

Citation

Lund AM, Skovby F, Knudsen FU. Ugeskr. Laeger 2000; 162(11): 1528-1533.

Vernacular Title

Bornemishandling og osteogenesis imperfecta. Hvordan ser vi forskel?

Affiliation

Børneafdeling L, Amtssygehuset i Glostrup. Lund@Biobase.dk

Copyright

(Copyright © 2000, Den Alm Danske Laegerforening)

DOI

unavailable

PMID

10868105

Abstract

Osteogenesis imperfecta is a hereditary connective tissue disorder. Typical manifestations are fragile bones with multiple bone fractures and bone deformities. A history of minimal or no trauma and recurrent fractures is a feature of OI, but is also typical of non-accidental injury (NAI). OI and NAI are relevant differential diagnoses when a child presents with unexplained fractures. The differential diagnostic problems are reviewed, all of which are important for the child both in terms of treatment and for prognosis, socially and medicolegally. We conclude that comprehensive clinical evaluation is adequate for differential diagnosis and that both OI and NAI can be diagnosed by positive anamnestic and objective signs. Mild OI IV without other signs than fracture(s) is very rare and the new entity temporary brittle bone disease is hypothetical; the diagnosis of these two clinical pictures is unacceptable in small children. Routine analysis of collagens should not be performed.


Language: da

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