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Genetic Study of Patients and Families With Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma of the Bone

Stenosis Clinical Trial

Clinical Trial Summary

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.

Clinical Trial Description

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. ;

Study Design

Primary Purpose: Screening

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT00007046
Study type Observational
Source National Center for Research Resources (NCRR)
Contact
Status Completed
Phase N/A
Start date August 2000
View Details
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