Recently, our group identified missense mutations in the PCNA-binding domain of CDKN1C in families with IMAGe syndrome (MIM# 614732), characterized by Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia and Genital anomalies.[4] Interestingly, CDKN1C mutations have previously been identified in Beckwith-Wiedemann Syndrome (BWS; MIM# 130650) and are distributed throughout entire length of the coding sequence of the gene. This evidence concerns the gene CDKN1C and IMAGe syndrome.