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
AD
Mild fragility without deformity,
short stature, (+) blue-gray
sclera
II
AD OR AR
Perinatal lethal
III
AD OR AR
Severe, progressive deformity
AD
Skeletal fragility and
osteoporosis, bowing
IV
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 Abuse
Finding
Osteo. Imp.
Abuse
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
Incidence
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