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Pierre Robin Sequence
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Robin sequence
              • Pierre Robin syndrome
            • Definitions

              • Mandibular hypoplasia with cleft palate and glossoptosis (downward displacement of the tongue), potentially leading to life-threatening airway obstruction

            IMAGING

            • General Features

              • Imaging Recommendations

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    CLINICAL ISSUES

                    • Presentation

                      • Natural History & Prognosis

                        • Treatment

                          Selected References

                          1. 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. ePub, 2016
                          2. 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
                          3. 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
                          4. Parada C et al: Mandible and tongue development. Curr Top Dev Biol. 115:31-58, 2015
                          5. 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
                          6. 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
                          7. Couchouron T et al: Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome. Joint Bone Spine. 78(1):45-9, 2011
                          8. Mahrous Mohamed A et al: Distraction osteogenesis as followed by CT scan in Pierre Robin sequence. J Craniomaxillofac Surg. 39(6):412-9, 2011
                          9. Parhizkar N et al: Nasopharyngeal airway for management of airway obstruction in infants with micrognathia. Cleft Palate Craniofac J. 48(4):478-82, 2011
                          10. Senggen E et al: First and second branchial arch syndromes: multimodality approach. Pediatr Radiol. 41(5):549-61, 2011
                          11. Al-Samkari HT et al: Neonatal outcomes of Pierre Robin sequence: an institutional experience. Clin Pediatr (Phila). 49(12):1117-22, 2010
                          12. 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
                          13. 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
                          14. Leboulanger N et al: Physiologic and clinical benefits of noninvasive ventilation in infants with Pierre Robin sequence. Pediatrics. 126(5):e1056-63, 2010
                          15. Suri S et al: Craniofacial morphology and adolescent facial growth in Pierre Robin sequence. Am J Orthod Dentofacial Orthop. 137(6):763-74, 2010
                          16. Bütow KW et al: Pierre Robin sequence: appearances and 25 years of experience with an innovative treatment protocol. J Pediatr Surg. 44(11):2112-8, 2009
                          17. Krimmel M et al: Three-dimensional assessment of facial development in children with Pierre Robin sequence. J Craniofac Surg. 20(6):2055-60, 2009
                          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

                                      • Mandibular hypoplasia with cleft palate and glossoptosis (downward displacement of the tongue), potentially leading to life-threatening airway obstruction

                                    IMAGING

                                    • General Features

                                      • Imaging Recommendations

                                        DIFFERENTIAL DIAGNOSIS

                                          PATHOLOGY

                                          • General Features

                                            CLINICAL ISSUES

                                            • Presentation

                                              • Natural History & Prognosis

                                                • Treatment

                                                  Selected References

                                                  1. 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. ePub, 2016
                                                  2. 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
                                                  3. 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
                                                  4. Parada C et al: Mandible and tongue development. Curr Top Dev Biol. 115:31-58, 2015
                                                  5. 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
                                                  6. 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
                                                  7. Couchouron T et al: Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome. Joint Bone Spine. 78(1):45-9, 2011
                                                  8. Mahrous Mohamed A et al: Distraction osteogenesis as followed by CT scan in Pierre Robin sequence. J Craniomaxillofac Surg. 39(6):412-9, 2011
                                                  9. Parhizkar N et al: Nasopharyngeal airway for management of airway obstruction in infants with micrognathia. Cleft Palate Craniofac J. 48(4):478-82, 2011
                                                  10. Senggen E et al: First and second branchial arch syndromes: multimodality approach. Pediatr Radiol. 41(5):549-61, 2011
                                                  11. Al-Samkari HT et al: Neonatal outcomes of Pierre Robin sequence: an institutional experience. Clin Pediatr (Phila). 49(12):1117-22, 2010
                                                  12. 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
                                                  13. 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
                                                  14. Leboulanger N et al: Physiologic and clinical benefits of noninvasive ventilation in infants with Pierre Robin sequence. Pediatrics. 126(5):e1056-63, 2010
                                                  15. Suri S et al: Craniofacial morphology and adolescent facial growth in Pierre Robin sequence. Am J Orthod Dentofacial Orthop. 137(6):763-74, 2010
                                                  16. Bütow KW et al: Pierre Robin sequence: appearances and 25 years of experience with an innovative treatment protocol. J Pediatr Surg. 44(11):2112-8, 2009
                                                  17. Krimmel M et al: Three-dimensional assessment of facial development in children with Pierre Robin sequence. J Craniofac Surg. 20(6):2055-60, 2009