Presented in part at the 2010 Annual Meeting of the American Society for Bone and Mineral Research, Toronto, ON, Canada, October 15–19, 2010.
Panostotic Expansile Bone Disease With Massive Jaw Tumor Formation and a Novel Mutation in the Signal Peptide of RANK
Article first published online: 19 MAR 2014
© 2014 American Society for Bone and Mineral Research
Journal of Bone and Mineral Research
Volume 29, Issue 4, pages 911–921, April 2014
How to Cite
Schafer, A. L., Mumm, S., El-Sayed, I., McAlister, W. H., Horvai, A. E., Tom, A. M., Hsiao, E. C., Schaefer, F. V., Collins, M. T., Anderson, M. S., Whyte, M. P. and Shoback, D. M. (2014), Panostotic Expansile Bone Disease With Massive Jaw Tumor Formation and a Novel Mutation in the Signal Peptide of RANK. J Bone Miner Res, 29: 911–921. doi: 10.1002/jbmr.2094
- Issue published online: 19 MAR 2014
- Article first published online: 19 MAR 2014
- Accepted manuscript online: 7 SEP 2013 04:47AM EST
- Manuscript Accepted: 3 SEP 2013
- Manuscript Revised: 30 AUG 2013
- Manuscript Received: 17 JUN 2013
- Department of Veterans Affairs. Grant Number: 5 IK2 CX000549-03
- Shriners Hospitals for Children
- National Institutes of Health. Grant Numbers: DK067145, K08 AR056299-02, R01 AR055588
- Division of Intramural Research
- National Institute of Dental and Craniofacial Research
Additional Supporting Information may be found in the online version of this article.
Table S1. Representative biochemical findings before and during bisphosphonate treatment.
|jbmr2094-sm-0002-SuppFig-S1.tif||3272K||Fig. S1. AP (A) and lateral (B) radiographs of the chin at age 20 years, and coronal (C) and 3-D image CTs (D, E) at ages 23 and 26, respectively, demonstrate further the large osteosclerotic mass protruding from the mandible.|
|jbmr2094-sm-0003-SuppFig-S2.tif||2402K||Fig. S2. CT of the face, after debulking of the maxillary and mandibular tumors, shows orbital and maxillary sinus distortion by the osteoblastic mass in coronal (A) and sagittal (B) projections.|
|jbmr2094-sm-0004-SuppFig-S3.tif||2826K||Fig. S3. Chest radiograph (A) and CT (B) at age 31 years show a bell-shaped thorax with wide deformed clavicles and ribs. The humeri have thick corticies and large medullary cavities filled with fat documented on the CT. There is a right pleural effusion.|
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