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[Acetabular protrusion in Marfan's disease].

J L Clément, P Lebarbier, J P Cahuzac

    Chirurgie Pediatrique
    |January 1, 1985
    PubMed
    Summary
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    Marfan syndrome is frequently associated with protrusio acetabuli, a hip condition. This study highlights protrusio acetabuli as a common orthopedic abnormality in Marfan syndrome, often asymptomatic in children.

    Area of Science:

    • Orthopedics
    • Genetics
    • Rheumatology

    Background:

    • Marfan syndrome is a genetic disorder affecting connective tissue, leading to diverse clinical manifestations.
    • Protrusio acetabuli, an abnormality where the acetabulum protrudes into the pelvic cavity, can cause hip pain and stiffness.
    • The etiology of primary protrusio acetabuli in children is often unclear, with associations noted with scoliosis, kyphosis, and hand deformities.

    Observation:

    • A study of 12 Marfan syndrome cases (11 children, 1 adult) revealed protrusio acetabuli in 19 out of 24 hips (80%).
    • Protrusio acetabuli was often asymptomatic (9/12 cases) and systematically present in observed Marfan syndrome patients.
    • Symptomatic cases presented with mechanical hip pain and limited mobility, with radiography showing idiopathic chondrolysis of the hips.

    Findings:

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    • Protrusio acetabuli is a near-constant orthopedic abnormality in Marfan syndrome.
    • The Ruelle and Dubois criteria can classify the severity of protrusio acetabuli.
    • Skin biopsy and metacarpal index measurements are crucial for diagnosing Marfan syndrome.

    Implications:

    • Protrusio acetabuli should be considered a significant indicator for investigating Marfan syndrome.
    • Early detection of protrusio acetabuli in children warrants thorough evaluation for underlying Marfan syndrome.
    • Understanding this association aids in the comprehensive orthopedic management of Marfan syndrome patients.