This variant is a heterozygous mutation in the imprinted gene CDKN1C, chromosome 11 g.2905353T>C (hg19), corresponding to NM_000076.2:c.832A>G (p.Lys278Glu), recently reported to cause IMAGe syndrome (the acronym stands for Intrauterine growth restriction, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies) (Arboleda et al. This evidence concerns the gene CDKN1C and fetal growth restriction.