Clinical and Molecular Characterization of Proteus Syndrome

本研究旨在描述变形杆菌综合征的临床和分子特征。变形肌综合征是一种散发性疾病，包括软组织和骨组织过度生长、智力迟钝和肿瘤易感性。这种病极为罕见，而且很难诊断。我们将收集受影响的受试者，并从临床角度进行详细评估，以了解该疾病的表现范围和自然历史。此外，我们将利用减法克隆技术、cDNA阵列、差异显示等新的分子工具，开始了解在这种疾病中受到干扰的基因途径。-智力迟钝，儿科研究，癌症研究，牙科/口腔疾病，脑部疾病，临床研究，诊断放射学-人类受试者

This study seeks to delineate the clinical and molecular features of Proteus syndrome. Proteus syndrome is a sporadic disorder that includes soft and bony tissue overgrowth, mental retardation, and tumor predisposition. It is extremely rare and difficult to diagnose. We will gather affected subjects and evaluate in detail from a clinical perspective to understand the range of manifestations of the disorder and the natural history. In addition, we will use new molecular tools of subtractive cloning techniques, cDNA arrays, differential display, etc. to begin to understand the gene pathway that is perturbed in this disorder. - Mental retardation, Pediatric research, cancer research, dental/oral disease, brain disorders, clinical research, diagnostic radiology - Human Subjects