Genetic Study of Patients and Families With Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma of the Bone
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 试验地点
- 1
研究概览
简要总结
OBJECTIVES: I. Identify and characterize the gene causing diaphyseal medullary stenosis with malignant fibrous histiocytoma of the bone.
II. Determine the clinical manifestations of this disease in these patients.
详细描述
PROTOCOL OUTLINE: Blood samples are obtained from affected individuals and their family members after genetic counseling. Genetic linkage analysis is performed on these blood samples. Unaffected individuals undergo x-rays and technetium bone scans to detect the presence of bone disease. Affected individuals undergo bone densitometry, MRI studies, thallium scans, ophthalmologic examination, electrocardiogram, echocardiogram, and skin biopsies.
Affected family members identified after radiologic studies receive additional genetic counseling.
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- 0 Years 至 90 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- 未提供
排除标准
- 未提供