Figure 1.

Clinical features of the proband at different ages, and family pedigree reporting phenotypes and genotypes of individual members. Facial features at 1 year (a), 3 years (b), 4 years (c), 7 years (f), 10 years (g), and 20 years (h). The proband shows bilateral supernumerary nipples (black arrows) (d), short feet (e,j), and low posterior hairline (i). The tree of the family shows transmission of the pathogenic PKD2 and CFTR variants, and the de novo occurrence of the pathogenic USP7 variant (k).