“ Type 1 accounts for 90% of neurofibromatosis, due to a chromosome 17 long arm mutation that is inherited in an autosomal dominant fashion...
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• Ribbon ribs/inferior rib notching (due to pressure from neurofibromas arising from intercostal nerves)
• Pseudarthrosis of the wrist, tibia, fibula and clavicle
• Anterolateral bowing centred at the junction of the middle-distal thirds of the tibia (associated with cystic and sclerotic change)
• Scoliosis—this is the most common skeletal abnormality (affects up to 40%).
• Posterior vertebral scalloping (due to dural ectasia).
• Kyphosis.
• Cystic osteolytic lesions with a sclerotic margin (most commonly affects the mandible).
• Low-attenuation masses (neurofibroma), dumbbell-shaped along the exiting nerve
• Hypoplasia of the pedicles/transverse processes/spinous processes (due to lateral thoracic
• Neurofibromas are low signal on pre-contrast T1; they enhance centrally.
• Neurofibromas may have central low T2 intensity with peripheral high signal (‘target sign’) and high signal on T2.
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