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Case Reports
. 1991 Jan;28(1):51-3.
doi: 10.1136/jmg.28.1.51.

Spondylocostal dysplasia and neural tube defects

G P Giacoia  1 , B Say
Affiliations
Case Reports

Spondylocostal dysplasia and neural tube defects

G P Giacoia et al. J Med Genet. 1991 Jan.

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.

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