Clinical perspectives on osteogenesis imperfecta versus non-accidental injury

Elaine Maria Pereira

Research output: Contribution to journalReview article

2 Scopus citations

Abstract

Although non-accidental injuries (NAI) are more common in cases of unexplained fractures than rare disorders such as osteogenesis imperfecta (OI), ruling out OI and other medical causes of fracture is always indicated. The majority of OI patients can be diagnosed with the help of family history, physical examination, and radiographic findings. In particular, there are a few radiological findings which are seen more commonly in NAI than in OI which may help guide clinician considerations regarding the probability of either of these diagnoses. At the same time, molecular testing still merits careful consideration in cases with unexplained fractures without obvious additional signs of abuse.

Original languageEnglish (US)
Pages (from-to)302-306
Number of pages5
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume169
Issue number4
DOIs
Publication statusPublished - Dec 1 2015

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Keywords

  • Child abuse
  • Non-accidental injury
  • Osteogenesis imperfecta
  • Rib fractures

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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