Abstract
Spondyloepiphyseal dysplasia congenita (SEDC) is a rare systemic skeletal disease characterized by congenital dwarfism, a short trunk, and epiphyseal dysplasia of the long bones and vertebral bodies and frequently suffers from atlantoaxial instability associated with os odontoideum, leading to spinal cord compression and occasionally to sudden death.
Abstracted and reported by Gembun et al. (2001)
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Reference
Gembun Y, Nakayama Y, Shirai Y, Miyamoto M, Sawaizumi T, Kitamura S. A case report of spondyloepiphyseal dysplasia congenita. J Nippon Med Sch. 2001;68(2):186–9.
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Eltorai, I.M. (2016). Atlantoaxial Instability in Spondyloepiphyseal Dysplasia Congenita. In: Rare Diseases and Syndromes of the Spinal Cord. Springer, Cham. https://doi.org/10.1007/978-3-319-45147-3_27
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DOI: https://doi.org/10.1007/978-3-319-45147-3_27
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