CDKN1C and IMAGe syndrome: 2012). On review of the literature, the patient's phenotype was felt to be highly congruent with those of previously reported patients, both with the specific mutation as well as with other IMAGe syndrome-causing mutations in the same gene, including the affected organ systems and specific clinical manifestations (Arboleda et al. 2012). As confirmed by Sanger sequencing (Fig. S1), the proband and his mother are heterozygous for the CDKN1C mutation while his father is homozygous reference (Fig.1).