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. 2021 Mar 8;59(3):305–312. doi: 10.1136/jmedgenet-2020-107427

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© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.

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Radiological features of individual 2’s skeletal alterations. (A) Multilocular radiolucent tumour in the anterior part of the mandible causing teeth displacement. (B, C) CT image with 3-D reconstruction showing cortical bone destruction. (D) Axial CT scan showing the primary tumour in the maxilla. (E–G) Osteolytic lesions in the squamous part of the temporal bone, greater wing of the sphenoid, lateral wall of the orbit and diploe of the left occipital bone. (H) Hypoplasia of the vertebral bodies and the intervertebral disc of C2–C3, with fusion of its posterior elements characterising vertebra in block.