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  • Title: Spine deformity in spondyloepimetaphyseal dysplasia.
    Author: Winter RB, Bloom BA.
    Journal: J Pediatr Orthop; 1990; 10(4):535-9. PubMed ID: 2358495.
    Abstract:
    Spondyloepimetaphyseal dysplasia is a rare skeletal dysplasia frequently associated with severe spinal deformity. These deformities can appear early in life. They progress rapidly and are potentially lethal. Two treated patients are described, both with severe progressive kyphoscoliosis. The first patient failed to obtain a solid fusion and died of cor pulmonale at age 23 years. The second patient had successful spine fusion with a follow-up of 7 years.
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