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Radiographic features of RNU4atac-opathy

Panels A/B: Anteroposterior (AP) and lateral thoracolumbar spine images of a nine-month-old female with microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI). The chest is broad and scoliosis is present. Note a thoracolumbar kyphosis with end plate irregularities of the vertebral bodies.

Panels C/D: AP images of the lower extremities of a different female with MOPDI at ages ten months and three years, eight months, respectively. Note flattening of the acetabular roofs and femoral bowing in both images. Metaphyseal changes are present. Note that the femoral shafts appear thinner and more gracile over time, and capital femoral epiphyseal ossification is delayed (Panel D).

Panel E: AP radiograph of the hand of a nine-month-old female with MOPDI. Note delayed carpal ossification, tapered phalanges, and dysplastic radial metaphysis.

Panels F/G: AP radiographs of the hips and knees of a female age three years, eight months with a more moderate RNU4atac-opathy phenotype. The capital femoral, distal femoral, and proximal tibial epiphyses are small and dysplastic.

Panel H: Standing AP radiograph of the lower extremities of the female in Panels F/G at age five years, six months. Note mesomelic proportions with genu valgum, significant and predominant epiphyseal dysplasia throughout, as well as minor metaphyseal changes.