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Sacral abnormalities in Marfan syndrome.

E K Fishman, S J Zinreich, A J Kumar

    Journal of Computer Assisted Tomography
    |October 1, 1983
    PubMed
    Summary
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    Computed tomography revealed sacral abnormalities in five women with Marfan syndrome, including spinal canal expansion and bony erosion. These findings, potentially linked to defective collagen, may cause low back pain and meningocele formation.

    Area of Science:

    • Radiology
    • Genetics
    • Orthopedics

    Background:

    • Marfan syndrome is a genetic disorder affecting connective tissue.
    • Sacral abnormalities are not commonly associated with Marfan syndrome.

    Observation:

    • Computed tomography (CT) identified sacral abnormalities in five women with Marfan syndrome.
    • These abnormalities included expansion of the central sacral spinal canal and enlarged sacral foramina with bony erosion.

    Findings:

    • Three patients experienced low back pain; two were asymptomatic.
    • Sacral meningoceles were present in three cases, and a thoracic meningocele in one.
    • Defective collagen is hypothesized to cause dural expansion and subsequent bone erosion.

    Implications:

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    • These findings highlight potential sacral involvement in Marfan syndrome.
    • Sacral abnormalities may contribute to low back pain in affected individuals.
    • Further research is warranted to understand the pathogenesis and clinical significance of these sacral findings.