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Pierre Robin Sequence
Caroline D. Robson, MBChB
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Pierre Robin sequence (PRS)
            • Synonyms

              • Robin sequence
            • Definitions

              • PRS triad: Micrognathia, glossoptosis, respiratory obstruction
                • Expanded criteria includes cleft secondary palate
              • Developmental sequence: Malformation → subsequent derived structural changes
                • Primary defects in mandibular outgrowth & elongation (chondropathy; defective Meckel cartilage growth)
                • External causes that secondarily impact mandibular growth (e.g., fetal constraint)

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Gross Pathologic & Surgical Features

                          CLINICAL ISSUES

                          • Presentation

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  • Image Interpretation Pearls

                                    Selected References

                                    1. Tan TY et al: Developmental and genetic perspectives on Pierre Robin sequence. Am J Med Genet C Semin Med Genet. 163C(4):295-305, 2013
                                    2. Benko S et al: Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet. 41(3):359-64, 2009
                                    3. Evans AK et al: Robin sequence: a retrospective review of 115 patients. Int J Pediatr Otorhinolaryngol. 70(6):973-80, 2006
                                    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

                                                • Pierre Robin sequence (PRS)
                                              • Synonyms

                                                • Robin sequence
                                              • Definitions

                                                • PRS triad: Micrognathia, glossoptosis, respiratory obstruction
                                                  • Expanded criteria includes cleft secondary palate
                                                • Developmental sequence: Malformation → subsequent derived structural changes
                                                  • Primary defects in mandibular outgrowth & elongation (chondropathy; defective Meckel cartilage growth)
                                                  • External causes that secondarily impact mandibular growth (e.g., fetal constraint)

                                              IMAGING

                                              • General Features

                                                • CT Findings

                                                  • MR Findings

                                                    • Imaging Recommendations

                                                      DIFFERENTIAL DIAGNOSIS

                                                        PATHOLOGY

                                                        • General Features

                                                          • Gross Pathologic & Surgical Features

                                                            CLINICAL ISSUES

                                                            • Presentation

                                                              • Natural History & Prognosis

                                                                • Treatment

                                                                  DIAGNOSTIC CHECKLIST

                                                                  • Consider

                                                                    • Image Interpretation Pearls

                                                                      Selected References

                                                                      1. Tan TY et al: Developmental and genetic perspectives on Pierre Robin sequence. Am J Med Genet C Semin Med Genet. 163C(4):295-305, 2013
                                                                      2. Benko S et al: Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet. 41(3):359-64, 2009
                                                                      3. Evans AK et al: Robin sequence: a retrospective review of 115 patients. Int J Pediatr Otorhinolaryngol. 70(6):973-80, 2006