Brioude et al. investigated a large cohort of patients with RSS without molecular cause published in 2013 and described a novel CDKN1C mutation (c.836G>[G:T} p.Arg279Leu) in a large French family causing RSS‐like phenotype (IUGR, relative macrocephaly, short stature with normal adrenal function) with no evidence of IMAGe. This evidence concerns the gene CDKN1C and rigid spine muscular dystrophy 1.