Osteogenesis Imperfecta

  • Also known as brittle-bone disease.
  • Is a genetic (inherited) disorder characterized by bones that break easily without a specific cause.


  • People with the disease have an error (mutation) in the genetic instructions on how to make strong bones. As a result their bones break easily.


  • Can result from autosomal dominant or recessive inheritance.
  • Mutation change occurs in the DNA (the genetic code) within a gene that makes collagen, a major component of the connective tissues in bones, ligaments, teeth, and the white outer tissue of the eyeballs (sclera).
  • The reticulum fails to differentiate into mature collagen or causes abnormal collagen development.
  • Leading to immature, coarse bone formation and cortical bone thinning.
  • Result in fragile bones that break easily.

Signs and Symptoms

  1. Multiple fractures at birth
  2. Bilaterally bulging skull
  3. Triangular shaped head and face
  4. Prominent eyes
  5. Blue or gray tinted sclera
  6. Pain and bone swelling
  7. Loss of function
  8. Thin, translucent skin
  9. Teeth that breaks easily
  10. Breathing problems
  11. Delayed walking
  12. Scoliosis as the child grows
  13. Tinnitus
  14. Hearing loss
  15. Kidney stone
  16. Urinary problems


  1. Family history and characteristics features such as blue sclera or deafness.
  2. Complete medical history and physical examination.
  3. Skin biopsy to determine the amount and structure of collagen.
  4. X-ray showing evidence of multiple old and new fractures and skeletal deformities.
  5. Eye examination to detect connective tissue problems of the eye.
  6. Bone Mineral Density (BMD) test
  7. Complete blood count
  8. Arthroscopy
  9. Bone biopsy.

Nursing Diagnoses

  • Pain
  • Impaired physical mobility
  • Risk for injury
  • Risk for infection
  • Self-care deficit
  • Knowledge deficit
  • Impaired gas exchange
  • Anxiety
  • Ineffective individual coping

Nursing Interventions

  1. Support limbs, do not pull on arms or legs or lift the legs to prevent more fractures or deformities.
  2. Position the patient with care.
  3. Check the patient’s circulatory, motor, and sensory abilities.
  4. Provide emergency care of fractures.
  5. Observe for signs of compartment syndrome.
  6. Encourage diet high in protein and vitamins to promote healing.
  7. Encourage fluids to prevent constipation, renal calculi, and urinary tract infection.
  8. Provide care for client with traction, with cast, or with open reduction.
  9. Encourage mobility when possible.
  10. Administer analgesics as prescribed.
  11. Teach the patient preventive measures.
  12. Monitor hearing needs.
  13. Aggressively teach all upper respiratory infections including colds.


  • Pressure ulcer
  • Pneumonia
  • Constipation
  • Anorexia
  • Urinary stasis
  • Infection
  • Hypovolemic shock
  • Pathologic fracture
  • Irreversible hearing loss
  • Fat embolism
  • Scoliosis

Daisy Jane Antipuesto RN MN

Currently a Nursing Local Board Examination Reviewer. Subjects handled are Pediatric, Obstetric and Psychiatric Nursing. Previous work experiences include: Clinical instructor/lecturer, clinical coordinator (Level II), caregiver instructor/lecturer, NC2 examination reviewer and staff/clinic nurse. Areas of specialization: Emergency room, Orthopedic Ward and Delivery Room. Also an IELTS passer.

What Do You Think?