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  • Title: Segmental spinal dysgenesis.
    Author: Scott RM, Wolpert SM, Bartoshesky LE, Zimbler S, Karlin L.
    Journal: Neurosurgery; 1988 Apr; 22(4):739-44. PubMed ID: 3374785.
    Abstract:
    Segmental spinal dysgenesis is characterized by focal agenesis or dysgenesis of the lumbar or thoracolumbar spine, with focal abnormality of the underlying spinal cord and nerve roots. Children are symptomatic at birth with lower limb deformities and neurological deficits that may be segmental. Myelography and computed tomography disclose hypoplastic or absent vertebrae and atrophic or absent neural elements adjacent to the bony deformity; the spinal column distal to the abnormality may be partially bifid, but is otherwise normal. Spinal ultrasonography was a helpful diagnostic adjunct in one patient. Surgery may be helpful in decompressing partially functioning spinal cord or nerve roots, but may exaggerate the tendency toward spinal instability. The embryology of this abnormality is not clear, but two children had other anomalies suggesting a spinal dysraphic syndrome, and its cause is probably related to a segmental maldevelopment of the neural tube.
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