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Case 17

History:

2 year old male. Post mortem radiographs. Multiple healing fractures involving upper and lower extremities and ribs.

Findings:

Post mortem radiographs. Multiple healing fractures involving upper and lower extremities and ribs.

Diagnosis:

Show Diagnosis

Discussion:

Osteogenesis imperfecta (OI) is typically classified as one of four types:

  • OI type I: (tarda) 90% more benign form with normal life expectancy.
    • blue sclera
    • ligamentous laxity
    • dental abnormalities
    • deafness
    • osseuse abnormality
  • OI type II: (congenital) 10% Death in utero or neonatal period.
  • OI type III: Fractures at birth, progressive limb deformity. Normal sclera and healing.
  • OI type IV: Bone fragility, normal sclera and healing.

Radiographic feature: Bowing deformity, cortical thinning, fractures, wormian bones, vertebral scalloping, severe kyphoscoliosis, acetabular protrusion.

References:

  • "Differential Diagnosis of Skeletal Lesions", in Practical Pediatric Radiology, 2nd ed., pages 419-423. S.vW Hilton, MD, and DK Edwards III, MD, eds. WB Saunders, 1994.
  • "Osteogenesis Imperfecta", in Caffey's Pediatric X-ray Diagnosis: An Integrated Imaging Approach, 9th ed., pages 1676-1680. FN Silverman, MD and JP Kuhn, MD, eds. Mosby, 1993.
  • Textbook of Disorders of the Musculoskeletal System, 2nd ed., pages 138-139. RB Salter, MD, Williams and Wilkins, 1983