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Quoted phrase not found in phrase index: "Craniofacial dysplasia - osteopenia syndrome"
Page 1
Coxa Vara Deformity in Fibrous Dysplasia/McCune-Albright Syndrome: Prevalence, Natural History and Risk Factors: A Two-Center Study.
Meier ME, Appelman-Dijkstra NM, Collins MT, Geels RES, Stanton RP, de Witte PB, Boyce AM, van de Sande MAJ. Meier ME, et al. J Bone Miner Res. 2023 Jul;38(7):968-975. doi: 10.1002/jbmr.4818. Epub 2023 May 21. J Bone Miner Res. 2023. PMID: 37102469 Free article.
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. ...Risk …
This study aimed to evaluate the prevalence of and risk factors for coxa vara deformity in patients with fibrous dysplasia/McCune-Alb …
DDX58 and Classic Singleton-Merten Syndrome.
Ferreira CR, Crow YJ, Gahl WA, Gardner PJ, Goldbach-Mansky R, Hur S, de Jesús AA, Nehrebecky M, Park JW, Briggs TA. Ferreira CR, et al. J Clin Immunol. 2019 Jan;39(1):75-80. doi: 10.1007/s10875-018-0572-1. Epub 2018 Dec 20. J Clin Immunol. 2019. PMID: 30574673 Free PMC article.
PURPOSE: Singleton-Merten syndrome manifests as dental dysplasia, glaucoma, psoriasis, aortic calcification, and skeletal abnormalities including tendon rupture and arthropathy. ...CONCLUSIONS: DDX58 mutations may be associated with the classic features of Singleton …
PURPOSE: Singleton-Merten syndrome manifests as dental dysplasia, glaucoma, psoriasis, aortic calcification, and skeletal abno …
Long Bone Fractures in Fibrous Dysplasia/McCune-Albright Syndrome: Prevalence, Natural History, and Risk Factors.
Geels RES, Meier ME, Saikali A, Tsonaka R, Appelman-Dijkstra NM, Boyce AM. Geels RES, et al. J Bone Miner Res. 2022 Feb;37(2):236-243. doi: 10.1002/jbmr.4463. Epub 2021 Nov 17. J Bone Miner Res. 2022. PMID: 34668234 Free PMC article.
Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare bone and endocrine disorder arising along a broad spectrum. ...In conclusion, higher skeletal burden score and MAS hyperthyroidism are associated with long-bone fractures in FD/MAS. Both ske …
Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare bone and endocrine disorder arising along a broad spectru …
Fracture incidence in polyostotic fibrous dysplasia and the McCune-Albright syndrome.
Leet AI, Chebli C, Kushner H, Chen CC, Kelly MH, Brillante BA, Robey PG, Bianco P, Wientroub S, Collins MT. Leet AI, et al. J Bone Miner Res. 2004 Apr;19(4):571-7. doi: 10.1359/JBMR.0301262. Epub 2003 Dec 22. J Bone Miner Res. 2004. PMID: 15005844 Free article.
In patients with polyostotic fibrous dysplasia of bone, the peak incidence of fractures is during the first decade of life, followed by a decrease thereafter. Phosphaturia is associated with an earlier incidence and increased frequency of fractures. INTRODUCTION: Fi …
In patients with polyostotic fibrous dysplasia of bone, the peak incidence of fractures is during the first decade of life, fo …
A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.
Midro AT, Stasiewicz-Jarocka B, Borys J, Kozłowski K, Skotnicka B, Tarasów E, Hubert E, Konstantynowicz J, Panasiuk B, Rydzanicz M, Pollak A, Stawiński P, Skowroński R, Płoski R. Midro AT, et al. Am J Med Genet A. 2018 Nov;176(11):2382-2388. doi: 10.1002/ajmg.a.40431. Epub 2018 Oct 17. Am J Med Genet A. 2018. PMID: 30329210
During follow-up, we observed abnormalities of vision, hearing, voice, and progression of craniofacial features in the form of skeletal dysplasia with affected skull, dentition, spine, limbs, fingers, and toes. Low bone mineral density and history of fragilit …
During follow-up, we observed abnormalities of vision, hearing, voice, and progression of craniofacial features in the form of skelet …