Bone and joint abnormalities
Bone dysplasia was identified in 6 (17.6%) cases: involving the sphenoid bone; the tibia; the spine; as well as, pseudoarthrosis of the interphalangeal joints of the phalanges (Figure 5c and d). Two of these, had involvement of long bones (including bowing of the tibia shown in Figure 5e), two cases had scoliosis, one of these had kyphosis, while absence of the sphenoid bone (sphenoid dysplasia) was seen in 2 cases on neuroimaging (cranial CT scan). A case of sphenoid aplasia is shown in association with an orbito-cranial neurofibroma in Figure 5f.