CDKN1C and omphalocele: These siblings shared many characteristics of BWSp, such as macroglossia, cleft palate, and omphalocele; however, sensorineural hearing loss, a less common feature, was observed in the proband and in his younger sister, once again supporting the intrafamilial phenotypic heterogeneity observed in patients that share the same pathogenic CDKN1C variant.