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OI Radiologic Findings
Wil File
Radiology Rotation
M4 Student Presentations
8/22/06
• 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.
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 + Marfan’s Syndrome are the most common heritable connective tissue disorders
• No racial or ethnic predilection
Subtypes of OI
TYPE INHERITANCE CHARACTERIZATION
I ADMild fragility without deformity,
short stature, (+) blue-gray sclera
II AD OR AR Perinatal lethal
III AD OR AR Severe, progressive deformity
IV ADSkeletal fragility and
osteoporosis, bowing
History/Physical Points in OI
History/Physical • frequent fractures, minimal trauma • deafness• blue sclerae • easy bruisability • joint laxity • softened teeth• abnormal skull shape • heat intolerance or excessive sweating • family history of above features
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
Wormian Bones
Basilar Invagination
Spinal Findings
OI vs. Child AbuseFinding Osteo. Imp. Abuse
Incidence Rare Common
Positive family history Common Common
Blue sclera Common Rare
Abnormal teeth Common Rare
Hearing problems Common Uncommon
Osteoporosis Common Rare
Abnormal fracture healing Common Rare
Wormian bones Common Rare
Joint laxity Common Rare
Short stature Common Occasionally
Fracture recurrence Common Rare
In utero fracture Common Rare
Common Abuse Fracture
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
Treatment
• Conventional: intensive physical rehabilitation, with orthopedic intervention as needed.
• Pharm: bisphosphonates
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
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