Association of spondylocostal dysostosis and type I split cord malformation

Abstract.

In reports on children with congenital segmental costovertebral malformations who showed neural tube defects, cases with type I split cord malformation are quite rare. Up to now such association has been reported only in two cases with Jarcho-Levin syndrome. Here, a 7-year-old girl presenting with spondylocostal dysostosis and type I split cord malformation is reported. To the best of our knowledge, this is the first case documented in the literature. The association of segmental costovertebral malformations and neural tube defects is discussed. Genetic and embryological studies are also briefly reviewed.