Figure 1. Typical campomelic dysplasia findings observed in the patients included in this study. A: Antero-posterior (AP) radiography of patient 7, showing short long bones with bowed femora and tibiae, a short thorax with eleven pairs of ribs, and hypoplastic pubic bones, although no SOX9 mutation was identified. B: Lateral radiography of patient 2. Bowing of the femora and tibiae, as well as thoracic constriction, are identifiable. C: AP radiography of patient 9. In addition to the skeletal abnormalities already described in patients 1 and 2, hypoplastic scapulae are present. D: Clinical picture of patient 2 at necropsy. A small, flat face can be observed, as well as micro- and retrognathia, and cleft palate. E: Clinical picture of patient 1 at necropsy, illustrating the club feet and the pre- and post-tibial skin dimples characteristic of CD.
