Townes–Brocks syndrome with adult renal impairment in a Chinese family: A case report

Figure 1 Clinical data for the family. A: Excessive earlobe of the proband; B: Preaxial polydactyly after surgical resection of the proband; C: Toe deformities of the proband; D: Excessive earlobe of the proband’s daughter; E: Preaxial polydactyly after surgical resection of the proband’s daughter.

Figure 2 Identification of the heterozygous variant in the family. A: Pedigree of the Chinese family. Affected family members are denoted in color. Three members (I-2, II-2 and III-4) underwent genetic study, while others were verified by Sanger sequencing. Arrow indicates the proband; B: Direct Sanger sequencing confirmed the heterozygous variant in SALL1 gene.