Type your tag names separated by a space and hit enter

    Osteogenesis Imperfecta

    Osteogenesis Imperfecta is a topic covered in the 5-Minute Emergency Consult.

    To view the entire topic, please or purchase a subscription.

    Emergency Central is a collection of disease, drug, and test information including 5-Minute Emergency Medicine Consult, Davis’s Drug, McGraw-Hill Medical’s Diagnosaurus®, Pocket Guide to Diagnostic Tests, and MEDLINE Journals created for emergency medicine professionals. Explore these free sample topics:

    Emergency Central

    -- The first section of this topic is shown below --

    Basics

    Description

    • Inherited abnormality ofprocollagen amino acid sequence
    • Bone hypomineralization and incomplete ossification result in brittle bones.
    • 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.

    Etiology

    • 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.

    Pediatric Considerations
    • Most cases involve pathologic fractures during childhood.
    • Multiple fractures often initiate evaluation for abuse, but the possibility of pathologic fractures also should be considered.

    -- To view the remaining sections of this topic, please or purchase a subscription --

    Citation

    Rosen, Peter, 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: Rosen P, Shayne P, Barkin AZ, et al, eds. 5-Minute Emergency Consult. 5th ed. Lippincott Williams & Wilkins; 2016. https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307141/all/Osteogenesis_Imperfecta. Accessed April 25, 2019.
    Osteogenesis Imperfecta. (2016). In Rosen, P., Shayne, P., Barkin, A. Z., Wolfe, R. E., Hayden, S. R., Barkin, R. M., & Schaider, J. J. (Eds.), 5-Minute Emergency Consult. Available from https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307141/all/Osteogenesis_Imperfecta
    Osteogenesis Imperfecta [Internet]. In: Rosen P, Shayne P, Barkin AZ, Wolfe RE, Hayden SR, Barkin RM, Schaider JJ, editors. 5-Minute Emergency Consult. Lippincott Williams & Wilkins; 2016. [cited 2019 April 25]. 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 - Rosen,Peter, ED - Shayne,Philip, ED - Barkin,Adam Z, ED - Wolfe,Richard E, ED - Hayden,Stephen R, ED - Barkin,Roger M, ED - Schaider,Jeffrey J, 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 -