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The spinal disorders in diastrophic dwarfism.

J A Herring

    The Journal of Bone and Joint Surgery. American Volume
    |March 1, 1978
    PubMed
    Summary

    Diastrophic dwarfism patients frequently exhibit spinal abnormalities, including cervical spina bifida occulta, scoliosis, and lumbar lordosis. These findings highlight the significant spinal involvement in this rare genetic disorder.

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    Area of Science:

    • Orthopedics
    • Genetics
    • Pediatric Medicine

    Background:

    • Diastrophic dwarfism is a rare skeletal dysplasia.
    • Spinal abnormalities are common in skeletal dysplasias.

    Purpose of the Study:

    • To investigate the spectrum and progression of spinal deformities in patients with diastrophic dwarfism.

    Main Methods:

    • Retrospective review of seven patients diagnosed with diastrophic dwarfism.
    • Clinical and radiographic assessment of spinal alignment and associated anomalies.

    Main Results:

    • All seven patients presented with cervical spina bifida occulta.
    • Five patients had progressive scoliosis.
    • All patients exhibited non-progressive lumbar lordosis.
    • Two patients had cervical kyphosis, severe in one case.

    Conclusions:

    • Cervical spina bifida occulta is a consistent finding in diastrophic dwarfism.
    • Progressive scoliosis and non-progressive lumbar lordosis are significant spinal manifestations.
    • Spinal evaluation is crucial for managing patients with diastrophic dwarfism.

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