The International Skeletal Dysplasia Registry

核心A，国际骨骼发育不良登记处（ISDR）成立于35年前，目前有 在一个安全、可上网、计算机化的数据库中储存了14 700多个案件，每个案件都有一个匿名代码 个人的该登记处是世界上最大的骨骼临床和研究资料来源 发育不良，并作为研究计划的骨干。这些材料包括临床信息， 射线照片，固定和冷冻的软骨-骨组织样品，组织学载玻片，电子显微照片， 培养的成纤维细胞和软骨细胞、淋巴母细胞样细胞系和DMA。通过该方法获得的材料 Registry被所有项目以及许多其他合作者广泛使用。射线照相 和软骨-骨形态学发现在数据库中以可搜索的格式编码， 查明具有类似发现的病例。登记的病例包括在我们的 矮身材诊所以及来自世界各地的病例。 该核心的具体目标包括：1）注册表的扩展;2）。细胞培养，核酸分离 酸和样品的分布;和3）。加强书记官处数据库。

Core A, The International skeletal Dysplasia Registry (ISDR) was established 35 years ago and currently has over 14,700 cases in a secure, web-accessible, computerized database with an anonymized code for each ndividual. The Registry is the largest resource in the world for clinical and research material on the skeletal dysplasias and serves as the backbone of the research program. The materials include clinical information, radiographs, fixed and frozen chondro-osseous tissue samples, histology slides, electron micrographs, cultured fibroblasts and chondrocytes, lymphoblastoid cell lines, and DMA. The materials obtained by the Registry are extensively used by all the Projects as well as by numerous other collaborators. Radiographic and chondro-osseous morphological findings are encoded in the database in a searchable format for rapid identification of cases with similar findings. Cases entered into the Registry include patients seen in our Short Stature Clinics as well as cases submitted from around the world. The Specific Aims of this Core include: 1) Expansionof the Registry;2). Cell culture, isolation of nucleic acids, and distribution of samples; and 3). Enhancement of the Registry database.