osteogenesis imperfecta; osteopsathyrosis; fragilitas ossium; Lobstein's disease (OI)

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Introduction

Inherited disorder characterized by osteopenia & brittle bones.

Classification

Epidemiology

Pathology

Genetics

Clinical manifestations

* cognitive impairment, delay in speech development, & self-mutilation are not typically associated[6]

Radiology

Management

More general terms

More specific terms

References

  1. 1.0 1.1 DeGowin & DeGowin's Diagnostic Examination, 6th edition, RL DeGowin (ed), McGraw Hill, NY 1994, pg 918
  2. Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2187-89
  3. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038, 2111-12
  4. Medical Knowledge Self Assessment Program (MKSAP) 16, 18. American College of Physicians, Philadelphia 2012, 2018,
  5. Glorieux FH. Osteogenesis imperfecta. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):85-100 PMID: https://www.ncbi.nlm.nih.gov/pubmed/18328983
  6. 6.0 6.1 6.2 6.3 Mannstadt M et al Case records of the Massachusetts General Hospital. Case 24-2014 - A 27-Year-Old Man with Severe Osteoporosis and Multiple Bone Fractures. N Engl J Med 2014; 371:465-472July 31, 2014 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/25075839 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMcpc1404139
  7. National Institute of Arthritis and Muscluloskeletal and Skin Diseases (NIAMS) Osteogenesis Imperfecta https://www.niams.nih.gov/health-topics/osteogenesis-imperfecta

Patient information

osteogenesis imperfecta patient information