Results 11 to 20 of about 298,062 (215)
Orphanet Journal of Rare Diseases, 2019 Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues and to a wide phenotype of clinical features
Muhammad Kassim Javaid +20 more
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Determinants of impaired quality of life in patients with fibrous dysplasia
Orphanet Journal of Rare Diseases, 2017 Background Fibrous dysplasia is a rare bone disorder, commonly associated with pain, deformity and fractures, which may significantly impact on quality of life.
Bas C. J. Majoor +7 more
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Current concepts of craniofacial fibrous dysplasia: pathophysiology and treatment
Archives of Craniofacial Surgery, 2023 Fibrous dysplasia is an uncommon genetic disorder in which bone is replaced by immature bone and fibrous tissue, manifesting as slow-growing lesions. Sporadic post-zygotic activating mutations in GNAS gene result in dysregulated GαS-protein signaling and
Dong Yeon Kim
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A Rare Skeletal Disorder, Fibrous Dysplasia: A Review of Its Pathogenesis and Therapeutic Prospects
International Journal of Molecular Sciences, 2023 Fibrous dysplasia (FD) is a rare, non-hereditary skeletal disorder characterized by its chronic course of non-neoplastic fibrous tissue buildup in place of healthy bone.
Ha-Young Kim, J. Shim, C. Heo
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Augmented reality navigation method for recontouring surgery of craniofacial fibrous dysplasia
Scientific Reports, 2021 The objective of this study is to introduce the application of augmented reality (AR) navigation system developed by the authors in recontouring surgery of craniofacial fibrous dysplasia. Five consecutive patients with craniofacial fibrous dysplasia were
Kai Liu +6 more
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Advances in Models of Fibrous Dysplasia/McCune-Albright Syndrome
Frontiers in Endocrinology, 2020 The Gs G-protein coupled receptor pathway is a critical regulator of normal bone formation and function. The Gs pathway increases intracellular cAMP levels by ultimately acting on adenylate cyclase.
H. Lung, E. Hsiao, K. Wentworth
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Reconstructive septorhinoplasty in radiation-induced reactive bone dysplasia
Otolaryngology Case Reports, 2019 Objective: To describe a complicated external septorhinoplasty in a case of nasal adenocarcinoma radiation-induced reactive bone dysplasia. Case description: We describe a 40-year-old female with high-grade sinonasal adenocarcinoma who was treated with ...
Nkechi N. Nwabueze +4 more
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Monostotic fibrous dysplasia in a 10-year-old patient
BLDE University Journal of Health Sciences, 2021 Fibrous dysplasia is a rare congenital bone disorder which manifests as a localized defect in osteoblastic differentiation and maturation with the replacement of normal bone with an abnormal scar-like fibrous connective tissue.
Gayatri Nayanar, Mamatha G S. Reddy
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Osteosarcomatous Transformation in Mazabraud Syndrome: A Case Report
대한영상의학회지, 2021 Mazabraud syndrome is a rare benign disease that is accompanied by polyostotic fibrous dysplasia and intramuscular myxoma. Malignant transformation of fibrous dysplasia occurs in approximately 1% of cases.
Yang Il Park +2 more
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Fibrous dysplasia/McCune-Albright syndrome: a rare, mosaic disease of Gαs activation.
Endocrine reviews, 2019 Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare disorder of striking complexity. It arises from somatic, gain-of-function mutations in GNAS, leading to mosaic Gαs activation and inappropriate production of intracellular cyclic adenosine ...
A. Boyce, M. Collins
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