Osteogenesis Imperfecta

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

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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.

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