Fig. 2

X-rays of an MPS VII infant at the age of 3 months (a–d) and 12 months (e, f) showing generalized skeletal dysplasia (dysostosis multiplex). The pelvis (a) shows typical imaging features characterized by rounded iliac wings and inferior tapering of the ilia with an undeveloped acetabulum; proximal epiphysis of the femurs are not ossified. The femurs (c) are short with hypoplastic epiphyses, similarly to the upper left limb (b) in which cortical thinning, flared metaphysis, and metacarpal widening are also identifiable. The hand (b) and foot (d) are typically dysmorphic: broad and short metacarpals and bullet-shaped phalanges. In the antero-posterior projection of the thorax (e), a marked thickening of the ribs is evident (oar shaped ribs). In the latero-lateral projection of the dorsal and lumbar spine (f), the lumbar vertebral bodies from L2 to L5 are markedly wedge deformed with anterior beaking aspect (arrows), and with angulation of the dorsal-lumbar tract