EVC and Ellis-van Creveld syndrome: 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.