Heather Borders, MD
over 6 years ago
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Joseph Junewick, MD FACR
|Diagnostic Category: Developmental or Congenital
|Created: over 6 years ago
|Updated: over 6 years ago
2 week old who fell from bed.
CR – Skull: Macrocephaly, osteopenia and wormian bones. Right Femur: Osteopenia, marked varus bowing with foreshortening, and healing fracture. Right Leg: Osteopenia, acute transverse fractures of the tibia and fibula, flared distal tibial metaphysis.
Osteogenesis imperfecta represents a clinically, radiographically and genetically diverse group of disorders of decreased bone density related to quantitative and/or structural deficits of type I collagen. Morbidity is largely due to fractures with subsequent deformity. Radiographic features include: generalized osteoporosis, retarded calvarial bone formation with wormian bones, collapsed vertebrae, rib fractures in severe cases, acetabular protrusio, and tubular bones with thin cortices (fractures, bowing and compression). Radiographic phenotypes are classified using the Sillence system; this has prognostic implications but does not imply underlying pathology.
Spranger JW, Brill PW, Poznanski AK. Bone dysplasias: An atlas of genetic disorders of skeletal development, 2nd Ed. Oxford University Press (2002).