Figure 1

Patient photographs of family members IV-2 and IV-3 show KFS phenotypes. Photographs of patients from the side (A and B) and behind (C and D) show short neck, low posterior hairline, and elevated scapula (Sprengel’s deformity). 3D cervical spine skull base CT images show omovertebral bone causing Sprengel’s deformity, posterior neural arch fusion defects, and fusions between vertebrae (E and F). Whole spine sagittal section T2-weighted MR images show cervical vertebrae count anomaly (G and H). Axial skull base CT images show malformation of the foramen magnum (I and J). Sagittal reconstruction of cervical and skull base CT images show abnormal bony formation emerging from posterior structures as well as fusion between posterior structures of some successive vertebrae, occipitalization of atlas and dens, and corpus anomalies (K and L). Scoliosis is evident on coronal T2-weighted whole spine MR images. Fusion defects are seen in midportions of vertebra corpuses (M and N).