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Hemifacial Microsomia
Caroline D. Robson, MBChB
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Hemifacial microsomia (HFM)
            • Synonyms

              • Oculoauriculovertebral spectrum, Goldenhar syndrome, facioauriculovertebral sequence
            • Definitions

              • Defect of 1st & 2nd pharyngeal arch derivatives ± neural crest cells
                • External & middle ear anomalies
                • Typically unilateral mandibular & TMJ hypoplasia
                • Hypoplastic muscles of mastication & facial muscles

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Staging, Grading, & Classification

                          CLINICAL ISSUES

                          • Presentation

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  • Image Interpretation Pearls

                                    Selected References

                                    1. Beleza-Meireles A et al: Oculo-auriculo-vertebral spectrum: CLINICAL and molecular analysis of 51 patients. Eur J Med Genet. ePub, 2015
                                    2. Manara R et al: Cranial nerve abnormalities in oculo-auriculo-vertebral spectrum. AJNR Am J Neuroradiol. 36(7):1375-80, 2015
                                    3. Supakul N et al: Ectopic external auditory canal and ossicular formation in the oculo-auriculo-vertebral spectrum. Pediatr Radiol. 45(7):1099-102, 2015
                                    4. Barisic I et al: Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe. Eur J Hum Genet. 22(8):1026-33, 2014
                                    5. 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
                                    6. Gougoutas AJ et al: Hemifacial microsomia: clinical features and pictographic representations of the OMENS classification system. Plast Reconstr Surg. 120(7):112e-120e, 2007
                                    7. Kosaki R et al: Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome. Am J Med Genet A. 143A(10):1087-90, 2007
                                    8. Strömland K et al: Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors. Am J Med Genet A. 143A(12):1317-25, 2007
                                    9. Wieczorek D et al: Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome. Hum Genet. 121(3-4):369-76, 2007
                                    10. Daniel SJ et al: Unilateral agenesis of the parotid gland: an unusual entity. Int J Pediatr Otorhinolaryngol. 67(4):395-7, 2003
                                    11. Rahbar R et al: Craniofacial, temporal bone, and audiologic abnormalities in the spectrum of hemifacial microsomia. Arch Otolaryngol Head Neck Surg. 127(3):265-71, 2001
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Top Differential Diagnoses

                                          • Clinical Issues

                                            • Diagnostic Checklist

                                              TERMINOLOGY

                                              • Abbreviations

                                                • Hemifacial microsomia (HFM)
                                              • Synonyms

                                                • Oculoauriculovertebral spectrum, Goldenhar syndrome, facioauriculovertebral sequence
                                              • Definitions

                                                • Defect of 1st & 2nd pharyngeal arch derivatives ± neural crest cells
                                                  • External & middle ear anomalies
                                                  • Typically unilateral mandibular & TMJ hypoplasia
                                                  • Hypoplastic muscles of mastication & facial muscles

                                              IMAGING

                                              • General Features

                                                • CT Findings

                                                  • MR Findings

                                                    • Imaging Recommendations

                                                      DIFFERENTIAL DIAGNOSIS

                                                        PATHOLOGY

                                                        • General Features

                                                          • Staging, Grading, & Classification

                                                            CLINICAL ISSUES

                                                            • Presentation

                                                              • Natural History & Prognosis

                                                                • Treatment

                                                                  DIAGNOSTIC CHECKLIST

                                                                  • Consider

                                                                    • Image Interpretation Pearls

                                                                      Selected References

                                                                      1. Beleza-Meireles A et al: Oculo-auriculo-vertebral spectrum: CLINICAL and molecular analysis of 51 patients. Eur J Med Genet. ePub, 2015
                                                                      2. Manara R et al: Cranial nerve abnormalities in oculo-auriculo-vertebral spectrum. AJNR Am J Neuroradiol. 36(7):1375-80, 2015
                                                                      3. Supakul N et al: Ectopic external auditory canal and ossicular formation in the oculo-auriculo-vertebral spectrum. Pediatr Radiol. 45(7):1099-102, 2015
                                                                      4. Barisic I et al: Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe. Eur J Hum Genet. 22(8):1026-33, 2014
                                                                      5. 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
                                                                      6. Gougoutas AJ et al: Hemifacial microsomia: clinical features and pictographic representations of the OMENS classification system. Plast Reconstr Surg. 120(7):112e-120e, 2007
                                                                      7. Kosaki R et al: Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome. Am J Med Genet A. 143A(10):1087-90, 2007
                                                                      8. Strömland K et al: Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors. Am J Med Genet A. 143A(12):1317-25, 2007
                                                                      9. Wieczorek D et al: Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome. Hum Genet. 121(3-4):369-76, 2007
                                                                      10. Daniel SJ et al: Unilateral agenesis of the parotid gland: an unusual entity. Int J Pediatr Otorhinolaryngol. 67(4):395-7, 2003
                                                                      11. Rahbar R et al: Craniofacial, temporal bone, and audiologic abnormalities in the spectrum of hemifacial microsomia. Arch Otolaryngol Head Neck Surg. 127(3):265-71, 2001