Fig. 2

Imaging investigations of skeletal deformities. a Non-contrast computed tomography scan of the brain at 21 months, showing the deformed skull shape (white arrows). The scan also revealed other abnormalities as described in-text. b Subtle widening of the ribs was noted (red arrows) on retrospective review of a chest X-ray taken on an admission for viral infection at 28 months. c Hip X-ray at 30 months, showing subluxation of bilateral hip joints. The femoral heads are above the Hilgenreiner’s line (in blue) and bilateral Shenton lines (dashed, in pink) show discontinuation