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Osteogenesis Imperfecta, Emergency Medicine

Reviewed 06/2017
 


Basics

Description

  • Inherited abnormality ofprocollagen amino acid sequence

  • Bone hypomineralization and incomplete ossification result in brittle bones.

  • Abnormal collagen affects all connective tissue to ...

Diagnosis

Signs and Symptoms

  • Multiple heritable defects that lead to brittle bones:

    • Often associated with other connective tissue abnormalities

  • A suspected fracture with a relatively minor mechanism or a...

Treatment

Pre-Hospital

Personnel should obtain information about mechanism or social factors that point toward pathologic fracture vs. nonaccidental trauma. 

Initial Stabilization/Therapy

  • Airway manageme...

Follow-Up

Disposition

Admission Criteria

  • Admission is determined by multiple trauma or operative needs for fracture repair.

  • Pediatric patients may need admission to investigate possibility of nonaccident...

Pearls and Pitfalls

  • The most challenging aspect of caring for these patients is differentiating between pathologic fractures associated with osteogenesis imperfecta and nonaccidental trauma. With any ...

Additional Reading

  • Bishop  N. Osteogenesis imperfecta. Medicine.  2005;33(12):67–69.

  • Prockop  DJ. Heritable disorders of connective tissue. In: Wilson  JD, et al., eds. Harrison's Principles of In...

Codes

ICD9

756.51 Osteogenesis imperfecta 

ICD10

Q78.0 Osteogenesis imperfecta 

SNOMED

  • 78314001 Osteogenesis imperfecta (disorder)

  • 385482004 osteogenesis imperfecta type I (disorder)

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