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Polyostotic fibrous dysplasia [PDF]
The Journal of Pediatrics, 1949 Summary A case of polyostotic fibrous dysplasia in a 5-year-old girl is reported. The diagnosis was made by the characteristic triad of predominantly unilateral bone lesions, precocious “puberty,” and unilateral skin pigmentation, and was substantiated by radiographic and pathologic examination of the bone lesions. The early onset of menses (second
L J, HACKETT, W M, CHRISTOPHERSON
openaire +4 more sources
Journal of Clinical and Biomedical Sciences, 2022 Fibrous dysplasia is a disease that causes aberrant development of osteoblasts, which results in fibrous stroma replacing normal bone. Lichtenstein first described it in 1938. It is a sporadic disorder caused due to a postzygotic mutation in the
R B Revanth +5 more
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Jaffe Lichtenstein Type Polyostotic Fibrous Dysplasia with Unilateral Absent Testis [PDF]
Journal of Clinical and Diagnostic Research, 2018 Fibrous dysplasias are developmental bone disorders in which the medullary cavity is replaced by fibrous tissue. It can be monostotic involving a single bone or polyostotic involving multiple bones.
Anand Ramakrishnan +3 more
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Polyostotic fibrous dysplasia: imaging findings of a controversial case [PDF]
Digital Diagnostics, 2022 Fibrous dysplasia is a rare non-neoplastic tumor-like congenital bone disease that is most likely associated with GNAS gene mutations, with a broad spectrum of clinical presentations, ranging from isolated monostotic and polyostotic forms to other extra ...
Francesca De Michele +3 more
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Frontiers in Surgery, 2022 IntroductionFibrous dysplasia is a benign fibrous bone tumor that accounts for 5% to 10% of benign bone tumors. It can manifest as simple fibrous dysplasia (70%–80%), polyostotic fibrous dysplasia (20%–30%), with approximately the same incidence in men ...
Qifan Yang +4 more
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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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Pagetoid polyostotic fibrous dysplasia [PDF]
BMJ Case Reports, 2015 Fibrous dysplasia (FD) is a benign skeletal lesion occurring due to mutation of Gs α gene and involves one or multiple bones. We present a case of a 30-year-old female patient, with a 1-year history of swelling under her right eye that had gradually increased in size.
Rashmi Maruti, Hosalkar +3 more
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Journal of Bone and Mineral Research, Volume 38, Issue 7, Page 968-975, July 2023., 2023 ABSTRACT This study aimed to evaluate the prevalence of and risk factors for coxa vara deformity in patients with fibrous dysplasia/McCune‐Albright syndrome (FD/MAS). This study was conducted at the National Institutes of Health and Leiden University Medical Center. All patients with any subtype of FD/MAS, FD involving the proximal femur, one or more X‐
Maartje E. Meier +7 more
wiley +1 more source
Nosology of genetic skeletal disorders: 2023 revision
American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023 Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger +20 more
wiley +1 more source
JBMR Plus, Volume 7, Issue 4, April 2023., 2023 Osteocyte (OCY)‐specific degradation‐resistant HIF‐2α (HIF‐2α cDR) mice generated a high bone mass skeletal phenotype with increased trabecular bone and decreased cortical bone. Distal femoral metaphysis of HIF‐2α cDR mice showed evidence of bone marrow stromal tissue expansion, increased trabecular bone and new bone formation compared to cre‐negative ...
Sarah V. Mendoza +6 more
wiley +1 more source