A case report of spondyloepiphyseal dysplasia congenita.
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.
Gembun
Y
Y
Department of Orthopaedic Surgery, Nippon Medical School, Tokyo, Japan.
Nakayama
Y
Y
Shirai
Y
Y
Miyamoto
M
M
Sawaizumi
T
T
Kitamura
S
S
D001268:Atlanto-Axial Joint / Q000601:surgery; D006801:Humans; D007593:Joint Instability / Q000209:etiology* / Q000601:surgery; D008297:Male; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000150:complications* / Q000151:congenital*; D013123:Spinal Fusion