2006 Skeletal fragility and osteoporosis, bowing AD IV

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OI Radiologic Findings

• Wil File
• Radiology Rotation
• M4 Student Presentations
• 8/22/06

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• Osteogenesis imperfecta (OI) also known as
  Brittle Bone Disease, heritable disorder of
  connective tissue with 4 subtypes.
• Hallmark feature is bone fragility, with a
  tendency to fracture from minimal trauma.

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Incidence

• Incidence of forms of OI recognizable at birth is
  1/20,000.
• Incidence of mild forms not recognizable until
  later in life is 1/21,000
• OI Marfans Syndrome are the most common
  heritable connective tissue disorders
• No racial or ethnic predilection

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Subtypes of OI
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History/Physical Points in OI

• History/Physical
• frequent fractures, minimal trauma
• deafness
• blue sclerae
• easy bruisability
• joint laxity
• discolored or softened teeth (dentinogenesis
  imperfecta)
• short stature
• abnormal skull shape
• heat intolerance or excessive sweating
• family history of above features

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X-ray Findings

• Fractures of all types occur in OI
• No consistent pattern of fracturing, many
  individuals have long fracture-free periods
• Can be seen in antenatal US diagnosed with CVS

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Wormian Bones
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Basilar Invagination
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Spinal Findings
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OI vs. Child Abuse
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Common Abuse Fracture
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Diagnostic Workup

• History/PE findings consistent with OI
• May need skin biopsy (collagen study), blood
  sample (DNA analysis) or bone histology to make
  definitive diagnosis
• DEXA of lumbar vertebral bodies for relatively
  quantitative assessment of pt.s osteoporosis

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Treatment

• Conventional intensive physical rehabilitation,
  with orthopedic intervention as needed.
• Pharm bisphosphonates

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Neuffer Teaching Point

• Yes his heart is a little large and no it is not
  supposed to touch the left chest wall and yes
  this is consistent with LV hypertrophy BUT it
  does NOT take away the fact that this guy is
  sh---ing all over his peritoneum.
• -Dr. Neuffer

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Worked Cited

• Wendy, Lane. Diagnosis and Management of
  Physical Abuse in Children. Clinical Family
  Practice 2005 Jun 5(2) 493.
• Antonazzi, Franco, Zamboni, Gorgio. Early
  Bisphosonate Treatment in Infants with Severe
  Osteogenesis Imperfecta. Journal of Pediatrics
  01-Aug-2006 149(2)174-179.
• Behran, Kliegman, Arvin. Osteogenesis
  Imperfecta. Nelson Textbook of Pediatrics 17th
  Ed. 2336-2338.
• Beary, John F.,Chines, Arkadi. Clinical Features
  and Diagnosis of Osteogenesis Imperfecta.
  UpToDate Accessed August 20, 2006