Test yourself: Question

A 10-year-old boy with a history of recurrent bilateral tibial fracture and short stature associated with several skeletal abnormalities. His 2-year-old younger sister also presents skeletal abnormalities including a left tibial fracture (Figs. 1, 2, 3, 4, 5 and 6).

Fig. 1
figure 1

a Left hand radiograph and b AP and lateral radiographs of the spine of the 10-year-old boy

Fig. 2
figure 2

Right and left legs radiographs of the 10-year-old boy

Fig. 3
figure 3

a Lateral radiograph of the skull and b VRT facial reformation of the 10-year-old boy

Fig. 4
figure 4

a Left hand and b right leg radiographs of the 8-year-old girl

Fig. 5
figure 5

AP thoracic radiograph of the 8-year-old girl

Fig. 6
figure 6

Lateral radiograph and VRT reconstructions of the skull of the 8-year-old girl