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Gibbal achondroplasia

P Beighton, C A Bathfield

    The Journal of Bone and Joint Surgery. British Volume
    |January 1, 1981
    PubMed
    Summary
    This summary is machine-generated.

    Thoracolumbar gibbus, a spinal deformity in achondroplasia, is more common in South African Negro infants. This may be linked to traditional infant carrying practices, suggesting prevention through modified carrying methods.

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    Clinical genetics·2014

    Area of Science:

    • Orthopedics
    • Genetics
    • Pediatrics

    Background:

    • Achondroplastic dwarfism is a genetic disorder characterized by disproportionate short stature.
    • Thoracolumbar gibbus, a spinal deformity, is a recognized but uncommon complication of achondroplasia.

    Purpose of the Study:

    • To investigate the prevalence of thoracolumbar gibbus in achondroplastic individuals of South African Negro ancestry.
    • To explore potential etiological factors contributing to the observed prevalence of this deformity.

    Main Methods:

    • A retrospective review of unselected achondroplastic patients from South Africa.
    • Comparison of gibbus prevalence between South African Negro achondroplasts and those of European/mixed ancestry.

    Main Results:

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    • Nine out of 17 (53%) South African Negro achondroplasts presented with a thoracolumbar gibbus.
    • Only one out of 20 (5%) achondroplasts of European or mixed ancestry had a gibbus.
    • A significantly higher prevalence of thoracolumbar gibbus was observed in the South African Negro cohort.

    Conclusions:

    • The high frequency of thoracolumbar gibbus in South African Negro achondroplasts suggests a potential environmental or cultural influence.
    • Traditional infant-carrying practices, involving prolonged spinal flexion, may contribute to vertebral wedging and gibbus formation.
    • Modifying infant-carrying practices could potentially prevent or reduce the incidence of thoracolumbar gibbus in at-risk populations.