Whole genome sequencing revealed a homozygous c.1645G>A p.(Gly549Arg) missense likely pathogenic variant in exon 12 (of 13) of the SLC27A4 gene, which is predicted to have a deleterious effect on the gene or its product; this rendered the diagnosis of IPS likely. This evidence concerns the gene SLC27A4 and ichthyosis prematurity syndrome.