Sclerosing bone dysplasias

Eveline Boudin; Wim Van Hul

doi:10.1016/j.beem.2018.06.003

Sclerosing bone dysplasias

Best Pract Res Clin Endocrinol Metab. 2018 Oct;32(5):707-723. doi: 10.1016/j.beem.2018.06.003. Epub 2018 Jun 18.

Authors

Eveline Boudin¹, Wim Van Hul²

Affiliations

¹ Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
² Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. Electronic address: Wim.vanhul@uantwerpen.be.

PMID: 30449550
DOI: 10.1016/j.beem.2018.06.003

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.

Keywords: bone density; differential diagnosis; hyperostosis; osteopetrosis; sclerosing bone disorders.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH 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