Osteogenesis Imperfecta

  1. General information
    1. An inherited disorder affecting collagen formation and resulting in pathologic fractures
    2. Types
      1. Osteogenesis imperfecta congenita: autosomal recessive, prognosis poor
      2. Osteogenesis imperfecta tarda: autosomal dominant, less severe form, involvement of varying degrees
    3. Classic picture includes soft, fragile bones; blue sclera; otosclerosis
    4. Severity of symptoms decreases at puberty due to hormone production and child's ability to prevent injury
  2. Medical management
    1. Magnesium oxide supplements
    2. Reduction and immobilization of fractures
  3. Assessment findings
    1. Osteogenesis imperfecta congenita
      1. Multiple fractures at birth
      2. Possible skeletal deformity due to intrauterine fracture
      3. Bones of skull are soft
      4. Occasional intracranial hemorrhage
    2. Osteogenesis imperfecta tarda
      1. Delayed walking, fractures, structural scoliosis as child grows
      2. Lower limbs more frequently affected
      3. Hypermobility of joints
      4. Prone to dental caries
  4. Nursing interventions
    1. Support limbs, do not stretch.
    2. Position with care; use blankets to aid in mobility and provide support.
    3. Instruct parents in bathing, dressing, diapering.
    4. Support parents; encourage expression of feelings of anger or guilt (parents may have been unjustly suspected of child abuse).




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