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Goldenhar Syndrome
Anne M. Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Oculo-auriculo-vertebral spectrum (OAVS)
                  • Many now favor this as more precise term
                • Facio-auriculo-vertebral syndrome
                • 1st and 2nd arch syndrome
              • Definitions

                • Developmental disorder involving structures derived from 1st and 2nd pharyngeal arches
                • No consensus on minimum diagnostic criteria
                  • Microtia (small external ear) or hemifacial microsomia + ear malformations suggested as minimal criteria
                    • Strict definition of microtia includes absence of external auditory meatus
                  • Isolated hemifacial microsomia with family history of OAVS may be sufficient
                  • Some references state diagnosis based on ≥ 2 of following findings
                    • Abnormal ears
                    • Hemifacial microsomia
                    • Lateral facial cleft
                    • Ocular abnormalities
                    • Vertebral anomalies
                  • ~ 50% of cases have additional cardiac, brain, pulmonary, or genitourinary abnormalities

              IMAGING

              • MR Findings

                • Ultrasonographic Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Genetics

                          • Etiology

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. Baugh AD et al: Sleep characteristics in Goldenhar Syndrome. Int J Pediatr Otorhinolaryngol. 79(3):356-8, 2015
                                        2. Beleza-Meireles A et al: Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients. Eur J Med Genet. 58(9):455-65, 2015
                                        3. Puvabanditsin S et al: 7q21.11 Microdeletion in a neonate with Goldenhar syndrome: Case report and a literature review. Cleft Palate Craniofac J.53(2):249-52, 2015
                                        4. Beleza-Meireles A et al: Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update. J Med Genet. 51(10):635-45, 2014
                                        5. Guzelmansur I et al: Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography. Genet Couns. 24(3):319-25, 2013
                                        6. Linder M et al: Intrauterine death of a child with Goldenhar syndrome: a case presentation and review of the literature. Arch Gynecol Obstet. 286(3):809-10, 2012
                                        7. Herwig MC et al: Preterm diagnosis of choristoma and choroidal coloboma in Goldenhar's syndrome. Pediatr Dev Pathol. 14(4):322-6, 2011
                                        8. Vendramini-Pittoli S et al: Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature. Clin Dysmorphol. 18(2):67-77, 2009
                                        9. Werler MM et al: Hemifacial microsomia: from gestation to childhood. J Craniofac Surg. 20 Suppl 1:664-9, 2009
                                        10. Ghi T et al: Prenatal sonographic imaging of Goldenhar syndrome associated with cystic eye. Prenat Diagn. 28(4):362-3, 2008
                                        11. Castori M et al: Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). Am J Med Genet A. 140(14):1573-9, 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

                                                  • Diagnostic Checklist

                                                    TERMINOLOGY

                                                    • Synonyms

                                                      • Oculo-auriculo-vertebral spectrum (OAVS)
                                                        • Many now favor this as more precise term
                                                      • Facio-auriculo-vertebral syndrome
                                                      • 1st and 2nd arch syndrome
                                                    • Definitions

                                                      • Developmental disorder involving structures derived from 1st and 2nd pharyngeal arches
                                                      • No consensus on minimum diagnostic criteria
                                                        • Microtia (small external ear) or hemifacial microsomia + ear malformations suggested as minimal criteria
                                                          • Strict definition of microtia includes absence of external auditory meatus
                                                        • Isolated hemifacial microsomia with family history of OAVS may be sufficient
                                                        • Some references state diagnosis based on ≥ 2 of following findings
                                                          • Abnormal ears
                                                          • Hemifacial microsomia
                                                          • Lateral facial cleft
                                                          • Ocular abnormalities
                                                          • Vertebral anomalies
                                                        • ~ 50% of cases have additional cardiac, brain, pulmonary, or genitourinary abnormalities

                                                    IMAGING

                                                    • MR Findings

                                                      • Ultrasonographic Findings

                                                        • Imaging Recommendations

                                                          DIFFERENTIAL DIAGNOSIS

                                                            PATHOLOGY

                                                            • General Features

                                                              • Genetics

                                                                • Etiology

                                                                  CLINICAL ISSUES

                                                                  • Presentation

                                                                    • Demographics

                                                                      • Natural History & Prognosis

                                                                        • Treatment

                                                                          DIAGNOSTIC CHECKLIST

                                                                          • Consider

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. Baugh AD et al: Sleep characteristics in Goldenhar Syndrome. Int J Pediatr Otorhinolaryngol. 79(3):356-8, 2015
                                                                              2. Beleza-Meireles A et al: Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients. Eur J Med Genet. 58(9):455-65, 2015
                                                                              3. Puvabanditsin S et al: 7q21.11 Microdeletion in a neonate with Goldenhar syndrome: Case report and a literature review. Cleft Palate Craniofac J.53(2):249-52, 2015
                                                                              4. Beleza-Meireles A et al: Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update. J Med Genet. 51(10):635-45, 2014
                                                                              5. Guzelmansur I et al: Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography. Genet Couns. 24(3):319-25, 2013
                                                                              6. Linder M et al: Intrauterine death of a child with Goldenhar syndrome: a case presentation and review of the literature. Arch Gynecol Obstet. 286(3):809-10, 2012
                                                                              7. Herwig MC et al: Preterm diagnosis of choristoma and choroidal coloboma in Goldenhar's syndrome. Pediatr Dev Pathol. 14(4):322-6, 2011
                                                                              8. Vendramini-Pittoli S et al: Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature. Clin Dysmorphol. 18(2):67-77, 2009
                                                                              9. Werler MM et al: Hemifacial microsomia: from gestation to childhood. J Craniofac Surg. 20 Suppl 1:664-9, 2009
                                                                              10. Ghi T et al: Prenatal sonographic imaging of Goldenhar syndrome associated with cystic eye. Prenat Diagn. 28(4):362-3, 2008
                                                                              11. Castori M et al: Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). Am J Med Genet A. 140(14):1573-9, 2006