TY - JOUR
T1 - Clinical perspectives on osteogenesis imperfecta versus non-accidental injury
AU - Pereira, Elaine Maria
N1 - Publisher Copyright:
© 2015 Wiley Periodicals, Inc.
PY - 2015/12/1
Y1 - 2015/12/1
N2 - 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.
AB - 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.
KW - Child abuse
KW - Non-accidental injury
KW - Osteogenesis imperfecta
KW - Rib fractures
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U2 - 10.1002/ajmg.c.31463
DO - 10.1002/ajmg.c.31463
M3 - Review article
C2 - 26492946
AN - SCOPUS:84954373774
SN - 1552-4868
VL - 169
SP - 302
EP - 306
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
IS - 4
ER -