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  • Title: A case report of spondyloepiphyseal dysplasia congenita.
    Author: Gembun Y, Nakayama Y, Shirai Y, Miyamoto M, Sawaizumi T, Kitamura S.
    Journal: J Nippon Med Sch; 2001 Apr; 68(2):186-9. PubMed ID: 11301365.
    Abstract:
    Spondyloepiphyseal dysplasia congenita (SED) is a rare form of skeletal systemic disease, characterized by congenital dwarfism with a short trunk and epiphysial dysplasia in the long bones and vertebral bodies. Patients also frequently suffer from atlanto-axial instability due to os odontoideum. Compression of the spinal cord caused by atlanto-axial instability is a common, serious complication in SED patients, and causes severe spinal cord symptoms or occasionally sudden death. We present an SED patient who underwent a posterior fusion of the occiput to the cervical spine for severe spinal cord symptoms due to atlanto-axial instability.
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