Spinal dysraphism, club feet, and dextrocardia with situs inversus totalis in a neonate: a rare association and review

Abstract

Abstract Objectives The spinal dysraphism and situs inversus are a rare association. Since 1909, reports on the coincidence of malformations of the spine and gastrointestinal tract have been published. So far there is no plausible explanation for the association. Case presentation We report a term female infant with spinal dysraphism with club feet associated with dextrocardia and situs inversus totalis. Whole genome SNP microarray analysis was normal. However, there are extended contiguous regions of allele homozygosity [>8 Mb[megabase]) observed in chromosome 6 and 14. Conclusions We report a rare association of spinal dysraphism and situs inversus totalis in a neonate. We review the literature. There have recently been theorized by some to in fact represent nothing more than the presence of two or more polytopic field defects, with all the anomalies present sharing a common molecular basis.