Figure 4: Radiographic Skeletal Survey At Age 15 Years:

a) Skull anteroposterior (AP) and b) lateral view [reproduced with permission from New England Journal of Medicine Whyte MP, Obrecht SE, Finnegan PM, Jones JL, Podgorink MN, McAlister WH, Mumm S, Osteoprotegerin Deficiency and Juvenile Paget’s Disease,⁽⁵⁾ 347: 182, 2002. Copyright © (2002) Massachusetts Medical Society] and c) lateral face show profound thickening of a markedly sclerotic diploic space containing small lucencies throughout. The skull base and maxilla and petrous bones are markedly osteosclerotic. Sinuses have developed, but the frontal sinuses contain osteosclerotic filling defects. Marked hypertelorism is present. The mandible is diffusely osteosclerotic with cortical thickening. The teeth are markedly deformed with hypoplastic roots (Figure 6).

d) Right AP humerus shows osteosclerosis with marked cortical thickening encroaching on the medullary cavity that is largely obliterated proximally. Linear lucencies and coarse trabeculae affect the distal humerus.

e) Right forearm shows radial head dislocation and deformity lacking articulation with the humerus. Bowing deformities of both forearm bones accompanies diffuse osteosclerosis, obliteration of the medullary cavities, and linear and small lucencies scatted throughout.

f) Right hand demonstrates some lack of modeling in the distal radius and ulna, diffuse osteosclerosis, and marked coarse linearly thick trabeculae. Patchy sclerosis affects the middle and distal phalanges. The carpal bones are almost uniformly sclerotic with small lucencies.

g) AP chest and thoracic and lumbar spine demonstrate diffusely and markedly sclerotic vertebrae with scoliosis. The lumbar vertebrae have an “hourglass” indentation anteriorly. The ribs are markedly sclerotic and expanded with small longitudinal lucencies with thick trabeculae throughout.

h) AP pelvis shows asymmetry, diffuse marked sclerosis with varying-sized small lucencies including linear ones, and distorted thick trabeculae. Coxa valga is present on the right, with a femoral plate and screws. Coxa vara on the left accompanies an intramedullary rod.

i) AP of right leg demonstrates marked osteosclerosis, cortical thickening with loss of the medullary cavity, coarse linear striations of bones primarily in the metaphyses, bowing the of the right tibia, and partial absence of the mid-right fibula (presumably from surgical resection).

j) AP left knee scanogram shows sclerotic coarse trabeculae.

k) AP left foot shows heel and forefoot varus with overall osteosclerosis, prominent linear longitudinal lucencies, and linear coarse striata-appearing trabeculae. Incomplete fractures of the metatarsals are present bilaterally.