Osteogenesis imperfecta

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

Type I (1)

• 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 (1)

• Lethal perinatally or before 1st year of life
• Severe deformity

Type III (1)

• 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 (1)

• 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 (1)

• Child abuse
• Primary juvenile osteoporosis
• Hypogonadism
• Malignancy

Evaluation (1-2)

• Family history
• Plain films
• DEXA scan and collagen studies (as outpatient)

Management

• Fracture reduction and splinting (2)
• Physical therapy (4)
• Fracture risk reduction with activity restriction (3-4)
• Recommendation for genetic counseling (1)

Complications

Cardiopulmonary (1)

• Kyphoscoliosis causing restrictive lung disease
• Pneumonia
• Cor Pulmonale
• Tricuspid regurgitation
• Aortic root dilation
• Left ventricular hypertrophy

Neurological (1)

• Hydrocephalus
• Basilar Invagination (headache, dysphagia, ataxia)

Disposition

• Home after splinting
• May admit if surgical fixation is required

References

1. 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/
2. 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) Keywords: Pathological fracture; Children; Congenital disease; Infection; Tumor
3. 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.
4. 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.