Neurofibromatosis
A 7-year-old boy presents with progressive thoracic scoliosis and multiple café au lait spots measuring greater than 5mm. His mother has similar skin findings and has had multiple subcutaneous nodules removed. Spinal radiographs show a short, sharp angular curve from T6-T9 with rib penciling, vertebral scalloping, and widened neural foramina. Regarding neurofibromatosis type 1 (NF1) and its orthopaedic manifestations:
Mark each as TRUE or FALSE
NF1 is caused by mutations in the neurofibromin gene on chromosome 17q11.2; it is autosomal dominant...
Dystrophic scoliosis in NF1 is characterized by short segment, sharply angular curves with vertebral...
NF2 is more common than NF1 affecting 1:3000 births; vestibular schwannomas are the hallmark of NF1;...
Congenital pseudarthrosis of the tibia occurs in approximately 5% of NF1 patients but 50% of congeni...
Plexiform neurofibromas are pathognomonic for NF1, can undergo malignant transformation (8-13% lifet...
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Click T (True) or F (False) for each option