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Oculo-Auriculo-Vertebral Spectrum (OAVS)
Brian L. Shaffer, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Oculo-auriculo-vertebral spectrum (OAVS)
              • Synonyms

                • Includes 3 subdivisions: Goldenhar, hemifacial microsomia, oculo-auriculo-vertebral disorder
                  • Variable features with Goldenhar typically most severe
                • 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; many use OMENS acronym (orbit, mandible, ear, facial nerve, soft tissues) to describe
                  • Microtia (small external ear) or hemifacial microsomia + ear malformations suggested as minimal criteria
                    • Microtia (definition): Absent 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
                  • OMENS acronym to assist in evaluation
                  • ~ 50% have additional CNS, cardiac, skeletal, or genitourinary abnormalities

              IMAGING

              • Ultrasonographic Findings

                • MR 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. Parizotto JOL et al: Craniofacial and airway morphology of individuals with oculoauriculovertebral spectrum. Orthod Craniofac Res. ePub, 2021
                                        2. Renkema RW et al: Extracraniofacial anomalies in craniofacial microsomia: retrospective analysis of 991 patients. Int J Oral Maxillofac Surg. 48(9):1169-76, 2019
                                        3. Siebold B et al: Evaluation of prenatal diabetes mellitus and other risk factors for craniofacial microsomia. Birth Defects Res. 111(11):649-58, 2019
                                        4. Ribeiro B et al: Goldenhar syndrome: a rare diagnosis with possible prenatal findings. BMJ Case Rep, 2016
                                        5. Baugh AD et al: Sleep characteristics in Goldenhar syndrome. Int J Pediatr Otorhinolaryngol. 79(3):356-8, 2015
                                        6. 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
                                        7. 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
                                        8. Guzelmansur I et al: Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography. Genet Couns. 24(3):319-25, 2013
                                        9. 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
                                        10. Herwig MC et al: Preterm diagnosis of choristoma and choroidal coloboma in Goldenhar's syndrome. Pediatr Dev Pathol. 14(4):322-6, 2011
                                        11. 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
                                        12. Werler MM et al: Hemifacial microsomia: from gestation to childhood. J Craniofac Surg. 20 Suppl 1:664-9, 2009
                                        13. Ghi T et al: Prenatal sonographic imaging of Goldenhar syndrome associated with cystic eye. Prenat Diagn. 28(4):362-3, 2008
                                        14. 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

                                                    • Abbreviations

                                                      • Oculo-auriculo-vertebral spectrum (OAVS)
                                                    • Synonyms

                                                      • Includes 3 subdivisions: Goldenhar, hemifacial microsomia, oculo-auriculo-vertebral disorder
                                                        • Variable features with Goldenhar typically most severe
                                                      • 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; many use OMENS acronym (orbit, mandible, ear, facial nerve, soft tissues) to describe
                                                        • Microtia (small external ear) or hemifacial microsomia + ear malformations suggested as minimal criteria
                                                          • Microtia (definition): Absent 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
                                                        • OMENS acronym to assist in evaluation
                                                        • ~ 50% have additional CNS, cardiac, skeletal, or genitourinary abnormalities

                                                    IMAGING

                                                    • Ultrasonographic Findings

                                                      • MR 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. Parizotto JOL et al: Craniofacial and airway morphology of individuals with oculoauriculovertebral spectrum. Orthod Craniofac Res. ePub, 2021
                                                                              2. Renkema RW et al: Extracraniofacial anomalies in craniofacial microsomia: retrospective analysis of 991 patients. Int J Oral Maxillofac Surg. 48(9):1169-76, 2019
                                                                              3. Siebold B et al: Evaluation of prenatal diabetes mellitus and other risk factors for craniofacial microsomia. Birth Defects Res. 111(11):649-58, 2019
                                                                              4. Ribeiro B et al: Goldenhar syndrome: a rare diagnosis with possible prenatal findings. BMJ Case Rep, 2016
                                                                              5. Baugh AD et al: Sleep characteristics in Goldenhar syndrome. Int J Pediatr Otorhinolaryngol. 79(3):356-8, 2015
                                                                              6. 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
                                                                              7. 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
                                                                              8. Guzelmansur I et al: Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography. Genet Couns. 24(3):319-25, 2013
                                                                              9. 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
                                                                              10. Herwig MC et al: Preterm diagnosis of choristoma and choroidal coloboma in Goldenhar's syndrome. Pediatr Dev Pathol. 14(4):322-6, 2011
                                                                              11. 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
                                                                              12. Werler MM et al: Hemifacial microsomia: from gestation to childhood. J Craniofac Surg. 20 Suppl 1:664-9, 2009
                                                                              13. Ghi T et al: Prenatal sonographic imaging of Goldenhar syndrome associated with cystic eye. Prenat Diagn. 28(4):362-3, 2008
                                                                              14. Castori M et al: Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). Am J Med Genet A. 140(14):1573-9, 2006