View source for Osteogenesis imperfecta

==Background== 
* 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.<ref name="Marini" />
* Presentation age varies by severity and subtype. May be discovered en utero or go undetected until middle age.<ref name="Marini" />

==Clinical Features<ref name="Marini" />==
Type I: Osteogenesis imperfecta tarda
* Fragile bones with fractures occurring after minimal trauma.
* Presents in early infancy
* Blue sclera
* Hearing loss (50%)
* Dentinogenesis imperfecta in some (opalescent or yellow-brown discoloration of tooth enamel)

Type II:  Osteogenesis imperfecta congenita
* Lethal perinatally or before 1st year of life
* Most common cause of death is pulmonary hypoplasia
* 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<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<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<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

==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==
<references/>


[[Category:Orthopedics]]