In our patient, we identified the compound heterozygous variant c.1991dup (exon 13) in EVC2 and a large deletion involving exon 1 in EVC and exons 1–7 in EVC2. The Human Gene Mutation Database (http://www.hgmd.cf.ac.uk/ac/index.php) includes 8 gross deletions in EVC and 6 gross deletions in EVC2. Three pedigrees of EVC with large deletions in EVC and EVC2 as well as in the contiguous genes C4orf6 and STK32B have been reported9,10. This evidence concerns the gene EVC2 and Ellis-van Creveld syndrome.