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Townes-Brocks Syndrome
Bernadette L. Koch, MD; Caroline D. Robson, MBChB
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          TERMINOLOGY

          • Abbreviations

            • Townes-Brocks syndrome (TBS)
          • Synonyms

            • Renal-ear-anal-radial (REAR) syndrome
          • Definitions

            • Autosomal dominant syndrome with renal, anal, ear, & thumb malformations caused by SALL1 mutations

          IMAGING

          • General Features

            • CT Findings

              • Imaging Recommendations

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    CLINICAL ISSUES

                    • Presentation

                      DIAGNOSTIC CHECKLIST

                      • Consider

                        Selected References

                        1. Valikodath NG et al: Ocular features of Townes-Brocks syndrome. J AAPOS. 24(2):115-8, 2020
                        2. Miller EM et al: Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. Am J Med Genet A. 158A(3):533-40, 2012
                        3. Botzenhart EM et al: Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat. 28(2):204-5, 2007
                        4. Kosaki R et al: Wide phenotypic variations within a family with SALL1 mutations: isolated external ear abnormalities to Goldenhar syndrome. Am J Med Genet A. 143A(10):1087-90, 2007
                        5. Keegan CE et al: Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. Genet Med. 3(4):310-3, 2001
                        6. Townes PL et al: Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. J Pediatr. 81(2):321-6, 1972
                        Related Anatomy
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                        Related Differential Diagnoses
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                        References
                        Tables

                        Tables

                        KEY FACTS

                        • Terminology

                          • Imaging

                            • Top Differential Diagnoses

                              • Clinical Issues

                                TERMINOLOGY

                                • Abbreviations

                                  • Townes-Brocks syndrome (TBS)
                                • Synonyms

                                  • Renal-ear-anal-radial (REAR) syndrome
                                • Definitions

                                  • Autosomal dominant syndrome with renal, anal, ear, & thumb malformations caused by SALL1 mutations

                                IMAGING

                                • General Features

                                  • CT Findings

                                    • Imaging Recommendations

                                      DIFFERENTIAL DIAGNOSIS

                                        PATHOLOGY

                                        • General Features

                                          CLINICAL ISSUES

                                          • Presentation

                                            DIAGNOSTIC CHECKLIST

                                            • Consider

                                              Selected References

                                              1. Valikodath NG et al: Ocular features of Townes-Brocks syndrome. J AAPOS. 24(2):115-8, 2020
                                              2. Miller EM et al: Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. Am J Med Genet A. 158A(3):533-40, 2012
                                              3. Botzenhart EM et al: Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat. 28(2):204-5, 2007
                                              4. Kosaki R et al: Wide phenotypic variations within a family with SALL1 mutations: isolated external ear abnormalities to Goldenhar syndrome. Am J Med Genet A. 143A(10):1087-90, 2007
                                              5. Keegan CE et al: Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. Genet Med. 3(4):310-3, 2001
                                              6. Townes PL et al: Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. J Pediatr. 81(2):321-6, 1972