Osteogenesis Imperfecta (OI) Questions & Answers

Updated: Feb 24, 2020
  • Author: Manoj Ramachandran, MBBS, MRCS, FRCS; Chief Editor: Harris Gellman, MD  more...
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Questions & Answers

Overview

What is osteogenesis imperfecta (OI)?

What is the pathophysiology of osteogenesis imperfecta (OI)?

What causes osteogenesis imperfecta (OI)?

What is the prevalence of osteogenesis imperfecta (OI)?

Which patient groups have the highest prevalence of osteogenesis imperfecta (OI)?

What is the prognosis of osteogenesis imperfecta (OI)?

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

What are the Osteogenesis Imperfecta Foundation recommendations on caring for children with osteogenesis imperfecta (OI)?

Presentation

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

How is osteogenesis imperfecta (OI) classified?

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) type V?

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

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

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

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

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

DDX

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

Which conditions are included in the differential diagnoses of osteogenesis imperfecta (OI) during the antenatal/neonatal period?

Which conditions are included in the differential diagnoses of osteogenesis imperfecta (OI) during preschool and childhood?

Which conditions are included in the differential diagnoses of osteogenesis imperfecta (OI) during adolescence and adulthood?

How is osteogenesis imperfecta (OI) differentiated from child abuse?

What are the differential diagnoses for Osteogenesis Imperfecta (OI)?

Workup

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

What is the role of ultrasonography 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 dual x-ray absorptiometry (DEXA) in the workup of osteogenesis imperfecta (OI)?

What is the role of scanning electron microscopy in the workup of osteogenesis imperfecta (OI)?

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

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

Treatment

How is osteogenesis imperfecta (OI) treated?

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

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

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

What is the role of receptor activator of nuclear factor-kappaB ligand (RANKL) in the treatment of osteogenesis imperfecta (OI)?

What is the role of bone marrow transplantation (BMT) in the treatment of osteogenesis imperfecta (OI)?

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

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

When is neurosurgery indicated in the treatment of osteogenesis imperfecta (OI)?

How are spinal deformities treated in 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)?

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

Medications

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

Which medications in the drug class Bisphosphonates are used in the treatment of Osteogenesis Imperfecta (OI)?