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Osteogenesis Imperfecta

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

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  • 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.


  • 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.

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TY - ELEC T1 - Osteogenesis Imperfecta ID - 307141 ED - Barkin,Adam Z, ED - Barkin,Roger M, ED - Hayden,Stephen R, ED - Rosen,Peter, ED - Schaider,Jeffrey J, ED - Shayne,Philip, 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 -