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J Med Genet 28:51-53 doi:10.1136/jmg.28.1.51
  • Research Article

Spondylocostal dysplasia and neural tube defects.

  1. G P Giacoia,
  2. B Say
  1. Department of Pediatrics, University of Oklahoma College of Medicine, Tulsa 74136.

      Abstract

      Spondylocostal dysplasia (Jarcho-Levin syndrome) comprises multiple malformations of the vertebrae and ribs coupled with a characteristic clinical picture of short neck, scoliosis, short trunk, and deformity of the rib cage. We describe a patient with the syndrome who also had spina bifida and diastematomyelia. We surmise that this association is not coincidental. Additional evidence is needed to support the hypothesis that spondylocostal dysplasia and neural tube defects are aetiologically related.