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Heather Borders, MD
over 10 years ago
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Neurofibromatosis Type I - Bone Dysplasia

Case Detail

Anatomy: Musculoskeletal
Joseph Junewick, MD FACR
Diagnostic Category: Neoplasia Benign
Created: over 10 years ago
Updated: over 10 years ago
Tags: PEDS
Modality/Study Types: CR
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5 month old female with numerous cafe-au-lait spots.

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Neurofibromatosis Type I – Bone Dysplasia


CR – Tibial bowing and undulation with sclerosis and narrowing of the medullary canal.


Tibial bowing occurs most often in neurofibromatosis but can also be seen in other fibrous diseases (osteofibrous dysplasia, familial expansile osteolysis) osteogenesis imperfecta, rickets (hypophosphatemic and nutritional), and bone dysplasias (campomelic and thanatophoric). Tibial bowing in neurofibromatosis is prone to fracture and pseudoarthrosis. Approximately 11% of patients with neurofibromatosis have pseudoarthrosis of the tibia.

Fracture and pseudoarthrosis occur in about half of patients with neurofibromatosis and osseous dysplasia of the tibia prior to 1 year of age. Regional sclerosis, narrowing of the medullary canal, cystic change and bowing/angulation are indicators of impending fracture and pseudoarthrosis.

The cause of fracture and pseudoarthrosis is not known with certainty but may be related to hamartomatous proliferation of fibrous tissue. Neurofibromas are not present in this region. Treatment of fractures and pseudoarthrosis of the tibia in neurofibromatosis is difficult with no clear advantage to any method.


Ozonoff M. Pediatric Orthopedic Radiology, 2nd Ed. WB Saunders Co (1992).

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