osteogenesis imperfecta; osteopsathyrosis; fragilitas ossium; Lobstein's disease (OI)
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Introduction
Inherited disorder characterized by osteopenia & brittle bones.
Classification
- type 1, mildest form, autosomal dominant
- type 2, lethal in utero or shortly after birth
- type 3, tends to become more severe with age
- type 4, bone fragility variable, autosomal dominant
Epidemiology
- most prevalent heritable disorder of connective tissue[6]
Pathology
- generalized osteopenia
- aortic incompetence
Genetics
- most patients have defects in 1 of the 2 alleles for type-1 collagen alpha chain (COLA1, COLA2)[1]
- contiguous gene deletion involving COL1A1 or COLA2 may complicate phenotypic expression[6]
Clinical manifestations
- musculoskeletal manifestations
- bone fractures with little pain
- skeletal defomities: skull, trunk, limbs
- short stature
- hypermobility of joints
- teeth may be normal, discolored or grossly abnormal (dentinogenesis imperfecta)
- ocular manifestations
- exophthalmos
- blue sclerae (characteristic but not specific)
- hearing loss
- generally begins in 2nd decade of life
- 90% of patients over age 30
- conductive, sensorineural or mixed
- middle ear bony & cartilagenous deformities
- progressive neurological symptoms may result from basilar compression & communicating hydrocephalus
* cognitive impairment, delay in speech development, & self-mutilation are not typically associated[6]
Radiology
Management
- treatment is ineffective
- severely affected children should be provided with
- physical therapy,
- surgical management of fractures & skeletal deformities
- vocational education
- surgical replacement of stapes for hearing loss
- aggressive treatment pneumonia & cor pulmonale
- growth hormone may increase growth in children
- bisphosphorates have been used to prevent bone loss
- no controlled studies
- audiology & dental evaluations
- patient education
- an appropriate amount of exercise may prevent bone loss due to inactivity
- counseling & emotional support
- prenatal diagnosis
- prognosis
- many patients live productive lives despite severe deformities
- risk of fractures decreases after puberty
- risk of fractures in women increases during pregnancy & after menopause
More general terms
- developmental bone disorder
- genetic disease of bone/skeletal system
- connective tissue disease; soft tissue disease
More specific terms
- Bruck syndrome; osteogenesis imperfecta with congenital joint contractures
- gnathodiaphyseal dysplasia; osteogenesis imperfecta with unusual skeletal lesions; gnathodiaphyseal sclerosis
- osteogenesis imperfecta type I; osteogenesis imperfecta tarda
- osteogenesis imperfecta type II; osteogenesis imperfecta congenita, neonatal lethal form
- osteogenesis imperfecta type III
- osteogenesis imperfecta type IV with normal sclera
- osteogenesis imperfecta type X (type 10)
References
- ↑ 1.0 1.1 DeGowin & DeGowin's Diagnostic Examination, 6th edition, RL DeGowin (ed), McGraw Hill, NY 1994, pg 918
- ↑ Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2187-89
- ↑ Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038, 2111-12
- ↑ Medical Knowledge Self Assessment Program (MKSAP) 16, 18. American College of Physicians, Philadelphia 2012, 2018,
- ↑ Glorieux FH. Osteogenesis imperfecta. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):85-100 PMID: https://www.ncbi.nlm.nih.gov/pubmed/18328983
- ↑ 6.0 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
- ↑ National Institute of Arthritis and Muscluloskeletal and Skin Diseases (NIAMS) Osteogenesis Imperfecta https://www.niams.nih.gov/health-topics/osteogenesis-imperfecta