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Townes-Brocks Syndrome
Caroline D. Robson, MBChB
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • 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. 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
                          2. 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
                          3. 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
                          4. 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
                          5. 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

                                • Pathology

                                  • 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. 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
                                                  2. 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
                                                  3. 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
                                                  4. 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
                                                  5. Townes PL et al: Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. J Pediatr. 81(2):321-6, 1972