Osteogenesis imperfecta: Difference between revisions
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==Background== | ==Background== | ||
* Also called brittle bone disease. ( | * Also called brittle bone disease.<ref name="Marini">Marini J, Smith SM. Osteogenesis Imperfecta. [Updated 2015 Apr 22]. In: De Groot LJ, Chrousos G, Dungan K, et al., editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK279109/</ref> | ||
* Most commonly secondary to a genetic defect in type I collagen with autosomal dominant inheritance. | * Most commonly secondary to a genetic defect in type I collagen with autosomal dominant inheritance.<ref name="Marini" /> | ||
* Presentation age varies by severity and subtype. May be discovered en utero or go undetected until middle age. | * Presentation age varies by severity and subtype. May be discovered en utero or go undetected until middle age.<ref name="Marini" /> | ||
==Clinical Features== | ==Clinical Features<ref name="Marini" />== | ||
Type I | Type I | ||
* Fragile bones with fractures occurring after minimal trauma. | * Fragile bones with fractures occurring after minimal trauma. | ||
* Blue sclera | * Blue sclera | ||
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* Dentinogenesis imperfecta in some (opalescent or yellow-brown discoloration of tooth enamel) | * Dentinogenesis imperfecta in some (opalescent or yellow-brown discoloration of tooth enamel) | ||
Type II | Type II | ||
* Lethal perinatally or before 1st year of life | * Lethal perinatally or before 1st year of life | ||
* Severe deformity | * Severe deformity | ||
Type III | Type III | ||
* Fragile bones with fractures occurring after minimal trauma. | * Fragile bones with fractures occurring after minimal trauma. | ||
* Bone deformity (progressive) | * Bone deformity (progressive) | ||
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* Short stature | * Short stature | ||
Type IV | Type IV | ||
* Fragile bones with fractures occurring after minimal trauma. | * Fragile bones with fractures occurring after minimal trauma. | ||
* Bone deformity | * Bone deformity | ||
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* Dentiogenesis Imperfecta in some | * Dentiogenesis Imperfecta in some | ||
==Differential Diagnosis | ==Differential Diagnosis== | ||
* Child abuse | * Child abuse | ||
* Primary juvenile osteoporosis | * Primary juvenile osteoporosis | ||
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* Malignancy | * Malignancy | ||
==Evaluation | ==Evaluation== | ||
* Family history | * Family history | ||
* Plain films | * Plain films | ||
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==Management== | ==Management== | ||
* Fracture reduction and splinting ( | * Fracture reduction and splinting<ref name="Canavese">F. Canavese, A. Samba, M. Rousset, Pathological fractures in children: Diagnosis and treatment options, Orthopaedics & Traumatology: Surgery & Research, Volume 102, Issue 1, 2016, Pages S149-S159, ISSN 1877-0568, http://dx.doi.org/10.1016/j.otsr.2015.05.010. (http://www.sciencedirect.com/science/article/pii/S1877056815003461)</ref> | ||
* Physical therapy | * Physical therapy<ref name="Marr">Marr C, Seasman A, Bishop N. Managing the patient with osteogenesis imperfecta: a multidisciplinary approach. Journal of Multidisciplinary Healthcare. 2017;10:145-155. doi:10.2147/JMDH.S113483.</ref> | ||
* Fracture risk reduction with activity restriction ( | * Fracture risk reduction with activity restriction<ref name="Shaker">Shaker JL, Albert C, Fritz J, Harris G. Recent developments in osteogenesis imperfecta. F1000Research. 2015;4(F1000 Faculty Rev):681. doi:10.12688/f1000research.6398.1.</ref> | ||
* Recommendation for genetic counseling | * Recommendation for genetic counseling | ||
==Complications== | ==Complications== | ||
Cardiopulmonary | Cardiopulmonary | ||
* Kyphoscoliosis causing restrictive lung disease | * Kyphoscoliosis causing restrictive lung disease | ||
* Pneumonia | * Pneumonia | ||
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* Aortic root dilation | * Aortic root dilation | ||
* Left ventricular hypertrophy | * Left ventricular hypertrophy | ||
Neurological | Neurological | ||
* Hydrocephalus | * Hydrocephalus | ||
* Basilar Invagination (headache, dysphagia, ataxia) | * Basilar Invagination (headache, dysphagia, ataxia) | ||
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==See Also== | ==See Also== | ||
==External Links== | ==External Links== | ||
==References== | ==References== | ||
<references/> | <references/> | ||
[[Category:Orthopedics]] | |||
Revision as of 08:23, 23 August 2017
Background
- Also called brittle bone disease.[1]
- Most commonly secondary to a genetic defect in type I collagen with autosomal dominant inheritance.[1]
- Presentation age varies by severity and subtype. May be discovered en utero or go undetected until middle age.[1]
Clinical Features[1]
Type I
- Fragile bones with fractures occurring after minimal trauma.
- Blue sclera
- Hearing loss (50%)
- Dentinogenesis imperfecta in some (opalescent or yellow-brown discoloration of tooth enamel)
Type II
- Lethal perinatally or before 1st year of life
- Severe deformity
Type III
- Fragile bones with fractures occurring after minimal trauma.
- Bone deformity (progressive)
- Blue sclera (variable, may fade with age)
- Hearing loss
- Dentinogenesis imperfecta
- Short stature
Type IV
- Fragile bones with fractures occurring after minimal trauma.
- Bone deformity
- Short stature (variable)
- Hearing loss in some
- White or blue sclera
- Dentiogenesis Imperfecta in some
Differential Diagnosis
- Child abuse
- Primary juvenile osteoporosis
- Hypogonadism
- Malignancy
Evaluation
- Family history
- Plain films
- DEXA scan and collagen studies (as outpatient)
Management
- Fracture reduction and splinting[2]
- Physical therapy[3]
- Fracture risk reduction with activity restriction[4]
- Recommendation for genetic counseling
Complications
Cardiopulmonary
- Kyphoscoliosis causing restrictive lung disease
- Pneumonia
- Cor Pulmonale
- Tricuspid regurgitation
- Aortic root dilation
- Left ventricular hypertrophy
Neurological
- Hydrocephalus
- Basilar Invagination (headache, dysphagia, ataxia)
Disposition
- Home after splinting
- May admit if surgical fixation is required
See Also
External Links
References
- ↑ 1.0 1.1 1.2 1.3 Marini J, Smith SM. Osteogenesis Imperfecta. [Updated 2015 Apr 22]. In: De Groot LJ, Chrousos G, Dungan K, et al., editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK279109/
- ↑ Marr C, Seasman A, Bishop N. Managing the patient with osteogenesis imperfecta: a multidisciplinary approach. Journal of Multidisciplinary Healthcare. 2017;10:145-155. doi:10.2147/JMDH.S113483.
- ↑ Shaker JL, Albert C, Fritz J, Harris G. Recent developments in osteogenesis imperfecta. F1000Research. 2015;4(F1000 Faculty Rev):681. doi:10.12688/f1000research.6398.1.