Fig. 1

Family pedigree and imaging. A Patients are designated by generation (Roman numerals I, II, III) and individual (Arabic numerals 1, 2, 3, 4). CDC73 germline mutation carriers are denoted with central black dots. Clinical manifestations related to CDC73 germline mutation are indicated in the quadrants as shown. B Axial CT of the patient III:1 showing multiple mixed-density lesions in the bilateral mandible, which are expansile and well demarcated. In the right mandible, central radiopacities are partly surrounded by a thin radiolucent rim. These lesions displaced teeth and the border of the mandible. A denovo lesion of the right mandible near the centerline showing low density. C Coronal MRI imaging of patient III:1 demonstrated two cystic/solid leisions in the right kidney showing mild enhancement during the delayed phase. D Coronal CT scan of the patient II:2 demonstrating bilateral maxillae lesions with mixed density. The right lesion is more obvious, invasion of the right maxillary sinus