Fig. 4: Radiographs depicting skeletal features of individuals with Saul–Wilson syndrome.

(a–e) Radiographs of lateral cervical spine in P4.1 at 8 months (a), P5.2 at 1 year 11 months (b), P3.1 at 2 years 6 months (c), P5.1 at 6 years 1 month (d), and P7.1 at 11 years 6 months (e). Note hypoplasia of the odontoid process in all (arrows). (f–j) Radiographs of lateral lumbar spine in P4.1 at 3 months old (f), P6.1 at 5 years 10 months (g), P5.1 at 6 years 7 months (h), P10.1 at 9 years 3 months (i), and P9.1 at 12 years 5 months (j). The vertebral bodies become taller and more irregular with age. Note hypoplasia of L1 in (g, h, i). (k–o) Radiographs of lower extremities in P7.1 at 23 days (k), P10.1 at 9 weeks (l), P8.1 at 6 months (m), P5.2 at 3 years 10 months (n), and P9.1 at 12 years 5 months (o). Note proximal femoral lucencies in the first few months of life (arrows), as well as overtubulation of the long bones with slender diaphyses and metaphyseal flaring in all. (p–t) Radiographs of hands in P4.1 at 3 months (p), P13.1 at 13 months (q), P6.1 at 6 years 9 months (r), P9.1 at 9 years 8 months (s), and P6.1 at 10 years (t). Note shortening of metacarpals and phalanges and cone-shaped epiphyses of the phalanges in all, accessory ossification centers of the proximal metacarpals (q, r, t), and the development of squared-off ivory epiphyses (arrows) in late childhood (s, t).