Figure 1.

A-D: Patient 1.A: Antero-posterior (AP) view showing facial features including hypertelorism. B: Lateral view showing brachycephaly and micrognathia. C: X-ray (XR) right radius/ulna showing broad appearance of the radius at the junction between the proximal and middle thirds. D: XR left hand showing crowding of the carpal bones, broad metacarpals, proximal and middle phalanges, and flexion at the MCP and PIP joints. E-G: Patient 2.E: AP view showing facial features including hypertelorism. F: Lateral view showing brachycephaly. G: 3D CT scan showing absence of the sagittal suture. H-J: Patient 3.H: AP view showing facial features including hypertelorism. I: Lateral view showing class III malocclusion and brachycephaly. J: 3D CT scan showing absence of the sagittal suture.

Bendon et al. BMC Medical Genetics 2012 13:104   doi:10.1186/1471-2350-13-104
Download authors' original image