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 TYPEINHERITANCECHARACTERIZATION IAD Mild fragility without deformity, short stature, (+) blue-gray sclera IIAD OR ARPerinatal lethal IIIAD OR ARSevere, progressive deformity IVAD Skeletal 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 Abuse FindingOsteo. Imp.Abuse IncidenceRareCommon Positive family historyCommon Blue scleraCommonRare Abnormal teethCommonRare Hearing problemsCommonUncommon OsteoporosisCommonRare Abnormal fracture healingCommonRare Wormian bonesCommonRare Joint laxityCommonRare Short statureCommonOccasionally Fracture recurrenceCommonRare In utero fractureCommonRare

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): Behran, Kliegman, Arvin. “Osteogenesis Imperfecta.” Nelson Textbook of Pediatrics 17 th Ed Beary, John F.,Chines, Arkadi. “Clinical Features and Diagnosis of Osteogenesis Imperfecta.” UpToDate Accessed August 20, 2006