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Inherited fibroblast growth factor 23 excess.
Cherian KE, Paul TV. Cherian KE, et al. Best Pract Res Clin Endocrinol Metab. 2024 Mar;38(2):101844. doi: 10.1016/j.beem.2023.101844. Epub 2023 Nov 28. Best Pract Res Clin Endocrinol Metab. 2024. PMID: 38044258 Review.
Syndromes of inherited fibroblast growth factor 23 (FGF-23) excess encompass a wide spectrum that includes X-linked hypophosphataemia (XLH), autosomal dominant and recessive forms of rickets as well as various syndromic conditions namely fibrous dysplasia/McCune Albright syndrome …
Syndromes of inherited fibroblast growth factor 23 (FGF-23) excess encompass a wide spectrum that includes X-linked hypophosphataemia (XLH), …
Osteoglophonic dysplasia.
Beighton P. Beighton P. J Med Genet. 1989 Sep;26(9):572-6. doi: 10.1136/jmg.26.9.572. J Med Genet. 1989. PMID: 2810341 Free PMC article. No abstract available.
Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations.
Sargar KM, Singh AK, Kao SC. Sargar KM, et al. Radiographics. 2017 Oct;37(6):1813-1830. doi: 10.1148/rg.2017170017. Radiographics. 2017. PMID: 29019756 Review.
Skeletal disorders caused by type 1 mutations include Pfeiffer syndrome (PS) and osteoglophonic dysplasia, and disorders caused by type 2 mutations include Crouzon syndrome (CS), Apert syndrome (AS), and PS. ...
Skeletal disorders caused by type 1 mutations include Pfeiffer syndrome (PS) and osteoglophonic dysplasia, and disorders cause …
Abnormal eruption of teeth in relation to FGFR1 heterozygote mutation: a rare case of osteoglophonic dysplasia with 4-year follow-up.
Zou Y, Lin H, Chen W, Chang L, Cai S, Lu YG, Xu L. Zou Y, et al. BMC Oral Health. 2022 Feb 11;22(1):36. doi: 10.1186/s12903-022-02069-6. BMC Oral Health. 2022. PMID: 35148738 Free PMC article.
BACKGROUND: We report a case and its 4-year follow-up of Osteoglophonic dysplasia (OD), a rare disease that disturbs both skeletal and dental development, which is usually caused by heterozygous FGFR1 mutations. ...
BACKGROUND: We report a case and its 4-year follow-up of Osteoglophonic dysplasia (OD), a rare disease that disturbs both skel …
Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions.
Marzin P, Baujat G, Gensburger D, Huber C, Bole C, Panuel M, Finidori G, De la Dure M, Cormier-Daire V. Marzin P, et al. Eur J Med Genet. 2020 Feb;63(2):103729. doi: 10.1016/j.ejmg.2019.103729. Epub 2019 Jul 15. Eur J Med Genet. 2020. PMID: 31319224
Non-ossifying fibromas are seen in different disorders recognizable by specific features. Indeed, osteoglophonic dysplasia (OD) is characterized by radiolucent bone lesions associated with severe short stature, dysmorphism and failure of dental eruption. ...
Non-ossifying fibromas are seen in different disorders recognizable by specific features. Indeed, osteoglophonic dysplasia (OD …
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
Courage C, Jackson CB, Owczarek-Lipska M, Jamsheer A, Sowińska-Seidler A, Piotrowicz M, Jakubowski L, Dallèves F, Riesch E, Neidhardt J, Lemke JR. Courage C, et al. Am J Med Genet A. 2019 Dec;179(12):2447-2453. doi: 10.1002/ajmg.a.61354. Epub 2019 Sep 11. Am J Med Genet A. 2019. PMID: 31512363
Pathogenic variants in FGFR1 have been described to cause phenotypically different FGFR1-related disorders such as Hartsfield syndrome, hypogonadotropic hypogonadism with or without anosmia, Jackson-Weiss syndrome, osteoglophonic dysplasia, Pfeiffer syndrome, and tr …
Pathogenic variants in FGFR1 have been described to cause phenotypically different FGFR1-related disorders such as Hartsfield syndrome, hypo …
Severe presentation of non-ossifying fibroma of the femur in osteoglophonic dysplasia.
Kumar A, Chong YT, Jamil K, Rusli E. Kumar A, et al. BMJ Case Rep. 2021 Nov 5;14(11):e245415. doi: 10.1136/bcr-2021-245415. BMJ Case Rep. 2021. PMID: 34740908 Free PMC article.
Osteoglophonic dwarfism, also known as osteoglophonic dysplasia (OD), is an uncommon skeletal dysplasia with an autosomal dominant mode of inheritance, which equally affects boys and girls. ...
Osteoglophonic dwarfism, also known as osteoglophonic dysplasia (OD), is an uncommon skeletal dysplasia with an autosomal domi …