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.