Fibrous dysplasia (FD) is a non-malignant condition caused by post-zygotic, activating mutations of the GNAS gene that results in inhibition of the differentiation and proliferation of bone-forming stromal cells and leads to the replacement of normal bone and marrow by fibrous tissue and woven bone. The phenotype is variable and may be isolated to a single skeletal site or multiple sites and sometimes is associated with extraskeletal manifestations in the skin and/or endocrine organs (McCune-Albright syndrome). The clinical behavior and progression of FD may also vary, thereby making the management of this condition difficult with few established clinical guidelines. This paper provides a clinically-focused comprehensive description of craniofacial FD, its natural progression, the components of the diagnostic evaluation and the multi-disciplinary management, and considerations for future research. © 2012 Lee et al; licensee BioMed Central Ltd.
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Lee, J. S., Fitzgibbon, E. J., Chen, Y. R., Kim, H. J., Lustig, L. R., Akintoye, S. O., … Kaban, L. B. (2012). Clinical guidelines for the management of craniofacial fibrous dysplasia. In Orphanet Journal of Rare Diseases (Vol. 7). https://doi.org/10.1186/1750-1172-7-S1-S2
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