- Inherited abnormality of procollagen amino acid sequence
- “Brittle bone disease”
- Bone hypomineralization and incomplete ossification result in brittle bones
- Incidence is 1/20,000 live births
- Abnormal collagen affects all connective tissue to varying degrees
- Time course is variable:
- Most cases involve fractures during childhood followed by quiescence during adolescence and early adulthood
- Procollagen defects result in abnormalities of bone and connective tissue matrix
- Defects in different sites on procollagen protein chain result in more severe forms
- Defects are inherited, either autosomal recessive (generally milder) or autosomal dominant (more severe)
- Lethal cases involve sporadic or new mutations
- Ehlers–Danlos syndrome involves mutations of the same procollagen protein in different locations
- Most cases involve pathologic fractures during childhood
- Multiple fractures often initiate evaluation for nonaccidental trauma, but the possibility of pathologic fractures also should be considered
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Schaider, Jeffrey J., et al., editors. "Osteogenesis Imperfecta." 5-Minute Emergency Consult, 5th ed., Lippincott Williams & Wilkins, 2016. Emergency Central, emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307141/all/Osteogenesis_Imperfecta.
Osteogenesis Imperfecta. In: Schaider JJJ, Barkin RMR, Hayden SRS, et al, eds. 5-Minute Emergency Consult. Lippincott Williams & Wilkins; 2016. https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307141/all/Osteogenesis_Imperfecta. Accessed May 31, 2023.
Osteogenesis Imperfecta. (2016). In Schaider, J. J., Barkin, R. M., Hayden, S. R., Wolfe, R. E., Barkin, A. Z., Shayne, P., & Rosen, P. (Eds.), 5-Minute Emergency Consult (5th ed.). Lippincott Williams & Wilkins. https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307141/all/Osteogenesis_Imperfecta
Osteogenesis Imperfecta [Internet]. In: Schaider JJJ, Barkin RMR, Hayden SRS, Wolfe RER, Barkin AZA, Shayne PP, Rosen PP, editors. 5-Minute Emergency Consult. Lippincott Williams & Wilkins; 2016. [cited 2023 May 31]. Available from: https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307141/all/Osteogenesis_Imperfecta.
* Article titles in AMA citation format should be in sentence-case
TY - ELEC T1 - Osteogenesis Imperfecta ID - 307141 ED - Barkin,Adam Z, ED - Shayne,Philip, ED - Rosen,Peter, ED - Schaider,Jeffrey J, ED - Barkin,Roger M, ED - Hayden,Stephen R, ED - Wolfe,Richard E, BT - 5-Minute Emergency Consult UR - https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307141/all/Osteogenesis_Imperfecta PB - Lippincott Williams & Wilkins ET - 5 DB - Emergency Central DP - Unbound Medicine ER -