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Genetic Diseases

  • Genetic Vascular Diseases
    - Marfan Syndrome
    - Ehlers Danlos Syndrome
    - Loeys Dietz Syndrome
  • Genetic Vascular Diseases
    - What is the genetic defect in each syndrome?
    - What are the classic as well as unique vascular imaging findings in each of the syndromes?
    - What are the extra-vascular findings that may help with reaching a correct diagnosis?
    - What are the unique clinical issues in each syndrome and how are they managed?
  • “Spinal and foot abnormalities were the most clinically important skeletal findings. Eleven patients had talipes equinovarus, and nineteen patients had cervical anomalies and instability. Thirty patients had scoliosis (mean Cobb angle [and standard deviation], 30 degrees +/- 18 degrees ). Two patients had spondylolisthesis, and twenty-two of thirty-three who had computed tomography scans had dural ectasia. Thirty-five patients had pectus excavatum, and eight had pectus carinatum. Combined thumb and wrist signs were present in approximately one-fourth of the patients. Acetabular protrusion was present in approximately one-third of the patients and was usually mild.”
    Musculoskeletal findings of Loeys-Dietz Syndrome
    Erkula G et al.
    J Bone Joint Surg Am 2010 Aug 4; 92(9);1876-1883
  • “Loeys-Dietz syndrome is a recently recognized multisystemic disorder caused by mutations in the genes encoding the transforming growth factor-beta receptor. It is characterized by aggressive aneurysm formation and vascular tortuosity. We report the musculoskeletal demographic, clinical, and imaging findings of this syndrome to aid in its diagnosis and treatment.”
    Musculoskeletal findings of Loeys-Dietz Syndrome
    Erkula G et al.
    J Bone Joint Surg Am 2010 Aug 4; 92(9);1876-1883
  • Certain tumors in the pediatric age group are not only more frequent but have signatures that may allow a very specific diagnosis. These include but are not limited to the following tumors;
    - aneurysmal bone cysts (expansile lesion with thin septations and fluid-fluid levels)
    - unicameral bone cysts (expansile lesion with thin rim and serous fluid which is homogeneous on CT)
    - osteoid osteoma (key finding is lesion nidus with subtle periosteal reaction)
    - chondroblastoma (key is lytic lesion in epiphyseal location)
    - osteochondroma (these are exostotic with smooth margins)
    - osteosarcoma (mixed lytic and sclerotic lesion with osteoid matrix present)
    - chondrosarcoma (uncommon except in malignant degeneration of an exostosis, chondroid matrix)
    - myositis ossificans (soft tissue calcification along rim of lesion usually a result of prior trauma. Can simulate tumor mass on CT and may be hot on PET.)