Sclerosing bone dysplasias.

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  • Author(s): Boudin E;Boudin E; Van Hul W; Van Hul W
  • Source:
    Best practice & research. Clinical endocrinology & metabolism [Best Pract Res Clin Endocrinol Metab] 2018 Oct; Vol. 32 (5), pp. 707-723. Date of Electronic Publication: 2018 Jun 18.
  • Publication Type:
    Journal Article; Research Support, Non-U.S. Gov't; Review
  • Language:
    English
  • Additional Information
    • Source:
      Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101120682 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-1594 (Electronic) Linking ISSN: 1521690X NLM ISO Abbreviation: Best Pract Res Clin Endocrinol Metab Subsets: MEDLINE
    • Publication Information:
      Publication: 2002- : Amsterdam : Elsevier
      Original Publication: Amsterdam : Harcourt Publishers, c2001-
    • Subject Terms:
      Bone Diseases, Developmental*/complications ; Bone Diseases, Developmental*/diagnosis ; Bone Diseases, Developmental*/pathology ; Bone Diseases, Developmental*/therapy; Bone and Bones/*pathology; Humans ; Mass Screening ; Osteopetrosis/diagnosis ; Osteopetrosis/etiology ; Osteopetrosis/pathology ; Osteopetrosis/therapy ; Sclerosis
    • Abstract:
      The group of sclerosing bone dysplasia's is a clinically and genetically heterogeneous group of rare bone disorders which, according to the latest Nosology and classification of genetic skeletal disorders (2015), can be subdivided in three subgroups; the neonatal osteosclerotic dysplasias, the osteopetroses and related disorders and the other sclerosing bone disorders. Here, we give an overview of the most important radiographic and clinical symptoms, the underlying genetic defect and potential treatment options of the different sclerosing dysplasias included in these subgroups.
      (Copyright © 2018 Elsevier Ltd. All rights reserved.)
    • Contributed Indexing:
      Keywords: bone density; differential diagnosis; hyperostosis; osteopetrosis; sclerosing bone disorders
    • Publication Date:
      Date Created: 20181120 Date Completed: 20190128 Latest Revision: 20190128
    • Publication Date:
      20221213
    • Accession Number:
      10.1016/j.beem.2018.06.003
    • Accession Number:
      30449550