Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Best Pract Res Clin Endocrinol Metab. 2018 Oct;32(5):707-723. doi: 10.1016/j.beem.2018.06.003. Epub 2018 Jun 18.
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.
硬化性骨发育不良组是一组临床和遗传异质性的罕见骨疾病，根据最新的遗传骨骼疾病分类（2015 年），可分为三个亚组；新生儿骨硬化性发育不良、石骨症及相关疾病和其他硬化性骨疾病。在这里，我们概述了这些亚组中包含的不同硬化性发育不良的最重要的放射学和临床症状、潜在的遗传缺陷和潜在的治疗选择。
