Sclerosing bone dysplasias

Publication date: Available online 18 June 2018
Source:Best Practice & Research Clinical Endocrinology & Metabolism
Author(s): Eveline Boudin, Wim Van Hul
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.



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