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Key Features

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  • Characterized by failure of segmentation of some or all of the cervical vertebrae

  • Multiple congenital spinal anomalies may be present, with hemivertebrae and scoliosis among the most common presentations

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Clinical Findings

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  • Short and stiff neck

  • Low hairline

  • Low set ears

  • Associated defects

    • Cervical rib

    • Spina bifida

    • Torticollis

    • Web neck

    • High scapula

    • Renal anomalies

    • Deafness

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Diagnosis

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  • Renal ultrasound

  • Hearing test

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Treatment

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  • Surgical intervention is necessary to prevent neurologic injury in symptomatic patients with unstable spinal anomalies

  • If asymptomatic, a spine surgeon will determine if surgical intervention is warranted after review of patient's age, history, and activity level

  • Spinal arthrodesis is indicated if progressive scoliotic deformities develop

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