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Pediatrics
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Head and Neck
Syndromes With Craniofacial Involvement
Pierre Robin Sequence
Pierre Robin Sequence
Bernadette L. Koch, MD; 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 (present in up to 85%)
              • 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)
              • In association with other syndromes in up to 45%: Stickler syndrome, velocardiofacial syndrome, Treacher Collins syndrome (TCS), Nager syndrome

            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. Kato RM et al: Comparison between Treacher Collins syndrome and Pierre Robin sequence: a cephalometric study. Cleft Palate Craniofac J. 58(1):78-83, 2021
                                    2. Kruse T et al: Prenatal Diagnosis of Robin Sequence: Sensitivity, Specificity, and Clinical Relevance of an Index for Micrognathia. Cleft Palate Craniofac J. 1055665620972297, 2020
                                    3. Ginat DT: Imaging findings in syndromes with temporal bone abnormalities. Neuroimaging Clin N Am. 29(1):117-28, 2019
                                    4. Hsieh ST et al: Pierre Robin sequence. Clin Plast Surg. 46(2):249-59, 2019
                                    5. Meyers AB et al: Imaging neonates and children with Pierre Robin sequence before and after mandibular distraction osteogenesis: what the craniofacial surgeon wants to know. Pediatr Radiol. 45(9):1392-402, 2015
                                    6. 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
                                    7. 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
                                    8. 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 (present in up to 85%)
                                                • 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)
                                                • In association with other syndromes in up to 45%: Stickler syndrome, velocardiofacial syndrome, Treacher Collins syndrome (TCS), Nager syndrome

                                              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. Kato RM et al: Comparison between Treacher Collins syndrome and Pierre Robin sequence: a cephalometric study. Cleft Palate Craniofac J. 58(1):78-83, 2021
                                                                      2. Kruse T et al: Prenatal Diagnosis of Robin Sequence: Sensitivity, Specificity, and Clinical Relevance of an Index for Micrognathia. Cleft Palate Craniofac J. 1055665620972297, 2020
                                                                      3. Ginat DT: Imaging findings in syndromes with temporal bone abnormalities. Neuroimaging Clin N Am. 29(1):117-28, 2019
                                                                      4. Hsieh ST et al: Pierre Robin sequence. Clin Plast Surg. 46(2):249-59, 2019
                                                                      5. Meyers AB et al: Imaging neonates and children with Pierre Robin sequence before and after mandibular distraction osteogenesis: what the craniofacial surgeon wants to know. Pediatr Radiol. 45(9):1392-402, 2015
                                                                      6. 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
                                                                      7. 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
                                                                      8. Evans AK et al: Robin sequence: a retrospective review of 115 patients. Int J Pediatr Otorhinolaryngol. 70(6):973-80, 2006