Abstract
Phenotypic features consistent but not completely diagnostic for spondyloepimetaphyseal dysplasia joint laxity (SEMDJL) were encountered in a 7-year-old-girl. Additional tomographic features of a hypoplastic atlas (assimilation of the posterior arch of the atlas) and unduly long odontoid process were seen. We report what might be a novel type of SEMDJL.
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Al Kaissi, A., Chehida, F.B., Ghachem, M.B. et al. A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome. Skeletal Radiol 37, 469–473 (2008). https://doi.org/10.1007/s00256-007-0443-y
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DOI: https://doi.org/10.1007/s00256-007-0443-y