Abstract
Spondyloepiphyseal dysplasia congenita, is an autosomal dominantly inherited chondrodysplasia, which occur due to a mutation in the COL2A1 gene encoding the type 2 procollagen alpha1 chain, proalpha1 (II). This disorder demonstrates short stature since birth and displays markedly involvement of the spine and the epiphyses of long bones. We presenteda 12 year-old boy who was diagnosed as spondyloepiphyseal dysplasic congenita due to typical findings of scoliosis and arcus fusion defects on vertebral magnetic resonance imaging because of the rarity of this skeletal dysplasia
Keywords: Spondyloepiphyseal dysplasia congenita, scoliosis, arcus fusion defect
References
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Copyright and license
Copyright © 2008 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.
