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Sclerosing bone dysplasias.
Best Practice & Research Clinical Endocrinology & Metabolism ( IF 6.1 ) Pub Date : 2018-11-20 , DOI: 10.1016/j.beem.2018.06.003
Eveline Boudin 1 , Wim Van Hul 1
Affiliation  

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.

中文翻译:

硬化性骨发育不良。

硬化性骨发育不良是临床上和遗传上异质的稀有骨骼疾病组,根据最新的《 Nosology》和遗传骨骼疾病分类(2015年),可分为三个亚组。新生儿骨硬化性异常增生,骨petoses及其相关疾病以及其他硬化性骨疾病。在这里,我们概述了这些亚组中最重要的放射影像学和临床症状,潜在的遗传缺陷和不同硬化性异型增生的潜在治疗选择。
更新日期:2019-11-01
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