BONE MINERAL DENSITY IN PATIENTS WITH SKELETAL DYSPLASIAS

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得主要资金，因此可以在其他CRISP条目中表示。所列机构为中心，不一定是研究者所在机构。本研究的总体目标是检查骨骼发育不良患者与相似年龄的普通人群相比，骨密度是否发生变化。骨骼发育不良是一组异质性疾病，其特征在于骨骼的生长和发育异常。包括与骨强度和完整性的主要改变相关的骨发育不良，以及影响软骨的软骨发育不良，从而影响骨骼的形状和纵向生长。由于没有描述该患者人群骨密度的初步数据，因此建议将其作为初探性研究。将使用双能X线吸收测定法（DXA扫描）以可靠的方式测量这些受试者的骨量密度。对结果的分析将使我们能够设计进一步的研究方案，以建立基因突变和矿物质沉积改变之间的相关性。此外，这些数据将为旨在确定不同干预措施对这些患者管理的影响的前瞻性研究提供基线。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The overall goal of this study is to examine whether patients with skeletal dysplasias have alterations in bone mineral density when compared to the general population of similar age. Skeletal dysplasias are a heterogeneous group of disorders characterized by abnormalities in the growth and development of the skeleton. The include the osteodysplasias, associated with primary alterations of bone strength and integrity, and chondrodysplasias which affect the cartilage, and hence, the shape and longitudinal growth of the skeleton. This is proposed as a pilot study since there are no preliminary data describing bone densities in this population of patients. Measurement of the bone mass density in these subjects will be performed in a reliable way using dual-energy X-ray absorptiometry (DXA scanning). Analysis of the results will allow us to design further research protocols to establish correlations between gene mutations and alterations in mineral deposition. Moreover, this data will provide a baseline for prospective studies aimed at determining the effects of different interventions for the managemnt of these patients.