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 language | English (US) |
|---|---|
| Pages (from-to) | 302-306 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics |
| Volume | 169 |
| Issue number | 4 |
| DOIs | |
| State | Published - Dec 1 2015 |
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Keywords
- Child abuse
- Non-accidental injury
- Osteogenesis imperfecta
- Rib fractures
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Clinical perspectives on osteogenesis imperfecta versus non-accidental injury. / Pereira, Elaine Maria.
In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Vol. 169, No. 4, 01.12.2015, p. 302-306.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Clinical perspectives on osteogenesis imperfecta versus non-accidental injury
AU - Pereira, Elaine Maria
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
UR - http://www.scopus.com/inward/record.url?scp=84954373774&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84954373774&partnerID=8YFLogxK
U2 - 10.1002/ajmg.c.31463
DO - 10.1002/ajmg.c.31463
M3 - Review article
C2 - 26492946
AN - SCOPUS:84954373774
VL - 169
SP - 302
EP - 306
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 4
ER -