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Fibrous dysplasia case study

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Metrics details. 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 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.
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Dysplasia | definition of dysplasia by Medical dictionary

Fibrous dysplasia is a disorder where normal bone and marrow is replaced with fibrous tissue , resulting in formation of bone that is weak and prone to expansion. As a result, most complications result from fracture , deformity, functional impairment, and pain. Fibrous dysplasia is not a form of cancer. Individual bone lesions typically manifest during the first few years of life and expand during childhood. The vast majority of clinically significant bone lesions are detectable by age 10 years, with few new and almost no clinically significant bone lesions appearing after age 15 years. Frequent fractures and progressive deformity may lead to difficulties with ambulation and impaired mobility.
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Hip Dysplasia in Adolescents and Young Adults

Insights into Imaging volume 9 , pages — Cite this article. Metrics details. Osseous changes are characterised by the replacement and distortion of normal bone with poorly organised, structurally unsound, fibrous tissue. The disease process may be localised to a single or multiple bones. In McCune-Albright syndrome MAS , fibrous dysplasia is associated with hyperfunction of endocrine organs and overproduction of melanin in the skin, while Mazabraud syndrome FD is associated with intramuscular myxomas.
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The authors present a case study of a patient with MCA diagnosed with multifocal fibrous dysplasia in his limb and craniofacial bones. The condition leads to increased production of c-AMP,. The mutation affects the somatic cells, hence the disorder is hereditary. It occurs in the early embryonic period.
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