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[1]

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[2]
  • Physical therapy[3]
  • Fracture risk reduction with activity restriction[4]
  • Recommendation for genetic counseling

Complications

Cardiopulmonary

Neurological

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

See Also



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)
  3. 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.
  4. 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.
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