Genetics of Osteogenesis Imperfecta Questions & Answers

Updated: Jul 13, 2021
  • Author: Eric T Rush, MD, FAAP, FACMG; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Questions & Answers

Overview

What is osteogenesis imperfecta (OI)?

What are the physical manifestations of osteogenesis imperfecta (OI)?

How is osteogenesis imperfecta (OI) diagnosed?

How is osteogenesis imperfecta (OI) treated?

What are the genetic groupings for osteogenesis imperfecta (OI)?

What is the role of genetics in the pathophysiology of osteogenesis imperfecta (OI) types I-IV?

What is the role of genetics in the pathophysiology of osteogenesis imperfecta (OI) type V?

What is the role of genetics in the pathophysiology of osteogenesis imperfecta (OI) type VI?

What is the role of genetics in the pathophysiology of osteogenesis imperfecta (OI) type VII-IX?

What is the role of genetics in the pathophysiology of osteogenesis imperfecta (OI) type X?

What is the role of genetics in the pathophysiology of osteogenesis imperfecta (OI) type XI?

What is the role of genetics in the pathophysiology of osteogenesis imperfecta (OI) type XII?

What is the role of genetics in the pathophysiology of osteogenesis imperfecta (OI) type XIII?

What is the role of genetics in the pathophysiology of osteogenesis imperfecta (OI) type XIV?

What is the role of genetics in the pathophysiology of osteogenesis imperfecta (OI) type XV?

What is the role of genetics in the pathophysiology of osteogenesis imperfecta (OI) type XVI?

What is the role of genetics in the pathophysiology of osteogenesis imperfecta (OI) type XVII?

What is the role of genetics in the pathophysiology of osteogenesis imperfecta (OI) type XVIII?

What is the role of genetics in the pathophysiology of osteogenesis imperfecta (OI) type XIX?

What is the role of genetics in the pathophysiology of Bruck syndrome?

What is the increased risk for cardiovascular disease in osteogenesis imperfecta (OI)?

What is the US prevalence of osteogenesis imperfecta (OI)?

What is the global prevalence of osteogenesis imperfecta (OI)?

What are the racial predilections of osteogenesis imperfecta (OI)?

What are the sexual predilections of osteogenesis imperfecta (OI)?

At what age is osteogenesis imperfecta (OI) typically diagnosed?

Presentation

Which clinical history findings are characteristic of osteogenesis imperfecta (OI)?

Which physical findings are characteristic of osteogenesis imperfecta (OI) type I?

Which physical findings are characteristic of osteogenesis imperfecta (OI) type II?

Which physical findings are characteristic of osteogenesis imperfecta (OI) type III?

Which physical findings are characteristic of osteogenesis imperfecta (OI) type IV?

Which physical findings are characteristic of osteogenesis imperfecta (OI)?

What causes osteogenesis imperfecta (OI)?

DDX

Which conditions are included in the differential diagnoses of osteogenesis imperfecta (OI)?

What are the differential diagnoses for Genetics of Osteogenesis Imperfecta?

Workup

What is the role of lab tests in the workup of osteogenesis imperfecta (OI)?

What is the role of bone mineral density tests in the workup of osteogenesis imperfecta (OI)?

What is the role of radiography in the workup of osteogenesis imperfecta (OI)?

What is the role of ultrasonography in the workup of osteogenesis imperfecta (OI)?

Which histologic findings are characteristic of osteogenesis imperfecta (OI)?

Treatment

How is osteogenesis imperfecta (OI)?

What is the role of surgery in the treatment of osteogenesis imperfecta (OI)?

What is the role of intramedullary rod placement in the treatment of osteogenesis imperfecta (OI)?

What is the role of neurosurgery in the treatment of osteogenesis imperfecta (OI)?

What is the role of spinal fusion in the treatment of osteogenesis imperfecta (OI)?

Which specialist consultations are beneficial to patients with osteogenesis imperfecta (OI)?

Which dietary modifications are used in the treatment of osteogenesis imperfecta (OI)?

Which activity modifications are used in the treatment of osteogenesis imperfecta (OI)?

Guidelines

What are the treatment guidelines for osteogenesis imperfecta (OI)?

Follow-up

What is the role of physical therapy in the treatment of osteogenesis imperfecta (OI)?

What is included in the long-term monitoring of osteogenesis imperfecta (OI)?

What are the possible complications of osteogenesis imperfecta (OI)?

What is the prognosis of osteogenesis imperfecta (OI)?

What is included in patient education about osteogenesis imperfecta (OI)?