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Pierre Robin Sequence
Brian L. Shaffer, MD; Roya Sohaey, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Robin sequence; Pierre Robin syndrome
            • Definitions

              • Micrognathia, glossoptosis, cleft palate
                • Glossoptosis: Backward and downward displacement of tongue (± airway obstruction)
                • Cleft palate: U-shaped defect (mostly soft palate)

            IMAGING

            • General Features

              • Imaging Recommendations

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    CLINICAL ISSUES

                    • Presentation

                      • Natural History & Prognosis

                        • Treatment

                          Selected References

                          1. Poets CF et al: Pierre Robin and breathing: what to do and when? Pediatr Pulmonol. ePub, 2021
                          2. Mouthon L et al: Prenatal diagnosis of micrognathia in 41 fetuses: retrospective analysis of outcome and genetic etiologies. Am J Med Genet A. 179(12):2365-73, 2019
                          3. Society for Maternal-Fetal Medicine. et al: Micrognathia. Am J Obstet Gynecol. 221(5):B13-5, 2019
                          4. Insalaco LF et al: Peripartum management of neonatal Pierre Robin sequence. Clin Perinatol. 45(4):717-35, 2018
                          5. Resnick CM et al: In utero glossoptosis in fetuses with Robin Sequence: measurements from prenatal MRI. Cleft Palate Craniofac J. 55(4):562-7, 2018
                          6. Breik O et al: Mandibular distraction osteogenesis for the management of upper airway obstruction in children with micrognathia: a systematic review. Int J Oral Maxillofac Surg. 45(6):769-82, 2016
                          7. Gomez-Ospina N et al: Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies. Am J Med Genet A. 170(4):870-80, 2016
                          8. Kaufman MG et al: Prenatal identification of Pierre Robin sequence: a review of the literature and look towards the future. Fetal Diagn Ther. 39(2):81-9, 2015
                          9. Parada C et al: Mandible and tongue development. Curr Top Dev Biol. 115:31-58, 2015
                          10. Sepulveda W et al: Absent mandibular gap in the retronasal triangle view: a clue to the diagnosis of micrognathia in the first trimester. Ultrasound Obstet Gynecol. 39(2):152-6, 2012
                          11. Anderson IC et al: Prevalence and severity of obstructive sleep apnea and snoring in infants with Pierre Robin sequence. Cleft Palate Craniofac J. 48(5):614-8, 2011
                          12. Bacher M et al: An oral appliance with velar extension for treatment of obstructive sleep apnea in infants with Pierre Robin sequence. Cleft Palate Craniofac J. 48(3):331-6, 2011
                          13. Couchouron T et al: Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome. Joint Bone Spine. 78(1):45-9, 2011
                          14. Mahrous Mohamed A et al: Distraction osteogenesis as followed by CT scan in Pierre Robin sequence. J Craniomaxillofac Surg. 39(6):412-9, 2011
                          15. Parhizkar N et al: Nasopharyngeal airway for management of airway obstruction in infants with micrognathia. Cleft Palate Craniofac J. 48(4):478-82, 2011
                          16. Senggen E et al: First and second branchial arch syndromes: multimodality approach. Pediatr Radiol. 41(5):549-61, 2011
                          17. Al-Samkari HT et al: Neonatal outcomes of Pierre Robin sequence: an institutional experience. Clin Pediatr (Phila). 49(12):1117-22, 2010
                          18. Costello BJ et al: Syndromic micrognathia and peri-natal management with the ex-utero intra-partum treatment (EXIT) procedure. Int J Oral Maxillofac Surg. 39(7):725-8, 2010
                          19. Franco J et al: Mandibular distraction using bone morphogenic protein and rapid distraction in neonates with Pierre Robin syndrome. J Craniofac Surg. 21(4):1158-61, 2010
                          20. Suri S et al: Craniofacial morphology and adolescent facial growth in Pierre Robin sequence. Am J Orthod Dentofacial Orthop. 137(6):763-74, 2010
                          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

                                    • Synonyms

                                      • Robin sequence; Pierre Robin syndrome
                                    • Definitions

                                      • Micrognathia, glossoptosis, cleft palate
                                        • Glossoptosis: Backward and downward displacement of tongue (± airway obstruction)
                                        • Cleft palate: U-shaped defect (mostly soft palate)

                                    IMAGING

                                    • General Features

                                      • Imaging Recommendations

                                        DIFFERENTIAL DIAGNOSIS

                                          PATHOLOGY

                                          • General Features

                                            CLINICAL ISSUES

                                            • Presentation

                                              • Natural History & Prognosis

                                                • Treatment

                                                  Selected References

                                                  1. Poets CF et al: Pierre Robin and breathing: what to do and when? Pediatr Pulmonol. ePub, 2021
                                                  2. Mouthon L et al: Prenatal diagnosis of micrognathia in 41 fetuses: retrospective analysis of outcome and genetic etiologies. Am J Med Genet A. 179(12):2365-73, 2019
                                                  3. Society for Maternal-Fetal Medicine. et al: Micrognathia. Am J Obstet Gynecol. 221(5):B13-5, 2019
                                                  4. Insalaco LF et al: Peripartum management of neonatal Pierre Robin sequence. Clin Perinatol. 45(4):717-35, 2018
                                                  5. Resnick CM et al: In utero glossoptosis in fetuses with Robin Sequence: measurements from prenatal MRI. Cleft Palate Craniofac J. 55(4):562-7, 2018
                                                  6. Breik O et al: Mandibular distraction osteogenesis for the management of upper airway obstruction in children with micrognathia: a systematic review. Int J Oral Maxillofac Surg. 45(6):769-82, 2016
                                                  7. Gomez-Ospina N et al: Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies. Am J Med Genet A. 170(4):870-80, 2016
                                                  8. Kaufman MG et al: Prenatal identification of Pierre Robin sequence: a review of the literature and look towards the future. Fetal Diagn Ther. 39(2):81-9, 2015
                                                  9. Parada C et al: Mandible and tongue development. Curr Top Dev Biol. 115:31-58, 2015
                                                  10. Sepulveda W et al: Absent mandibular gap in the retronasal triangle view: a clue to the diagnosis of micrognathia in the first trimester. Ultrasound Obstet Gynecol. 39(2):152-6, 2012
                                                  11. Anderson IC et al: Prevalence and severity of obstructive sleep apnea and snoring in infants with Pierre Robin sequence. Cleft Palate Craniofac J. 48(5):614-8, 2011
                                                  12. Bacher M et al: An oral appliance with velar extension for treatment of obstructive sleep apnea in infants with Pierre Robin sequence. Cleft Palate Craniofac J. 48(3):331-6, 2011
                                                  13. Couchouron T et al: Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome. Joint Bone Spine. 78(1):45-9, 2011
                                                  14. Mahrous Mohamed A et al: Distraction osteogenesis as followed by CT scan in Pierre Robin sequence. J Craniomaxillofac Surg. 39(6):412-9, 2011
                                                  15. Parhizkar N et al: Nasopharyngeal airway for management of airway obstruction in infants with micrognathia. Cleft Palate Craniofac J. 48(4):478-82, 2011
                                                  16. Senggen E et al: First and second branchial arch syndromes: multimodality approach. Pediatr Radiol. 41(5):549-61, 2011
                                                  17. Al-Samkari HT et al: Neonatal outcomes of Pierre Robin sequence: an institutional experience. Clin Pediatr (Phila). 49(12):1117-22, 2010
                                                  18. Costello BJ et al: Syndromic micrognathia and peri-natal management with the ex-utero intra-partum treatment (EXIT) procedure. Int J Oral Maxillofac Surg. 39(7):725-8, 2010
                                                  19. Franco J et al: Mandibular distraction using bone morphogenic protein and rapid distraction in neonates with Pierre Robin syndrome. J Craniofac Surg. 21(4):1158-61, 2010
                                                  20. Suri S et al: Craniofacial morphology and adolescent facial growth in Pierre Robin sequence. Am J Orthod Dentofacial Orthop. 137(6):763-74, 2010