Fig. 1

Radiological findings. Upper panel (a-d) shows early postnatal plain radiographs (Day 12) and lower panel (e-h) shows corresponding post-mortem plain radiographs. Bone density is considerably less in each upper panel image compared with lower images (skull a and e, chest b and f, upper limb c and g, lower limb d and h). Chest X-rays (b and f): thoracic size is extremely reduced (b), to a lesser degree post-mortem (f), which also shows broad and more calcified ribs, although with irregularities posteriorly and laterally consistent with healed fractures. Upper limb: early postnatal imaging (c) shows ill-defined metaphyses; then (g) more sharply defined metaphyses, prominent growth restart lines in diaphyses and bone-in-bone appearance. Lower limb: d shows initial poorly defined metaphyses, reduced bone density and metaphyseal fractures; then H shows healed fractures, better metaphyseal delineation, prominent growth restart lines in diaphyses and bone-in-bone appearance