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Treacher Collins Syndrome
Roya Sohaey, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Treacher Collins syndrome (TCS)
            • Synonyms

              • Franceschetti-Klein syndrome
              • Berry syndrome
            • Definitions

              • Mandibulofacial dysostosis
              • Characteristic facial features (variable expression)
                • Mandible and zygomatic arch hypoplasia
                • Abnormal shape, size, and position of auricles
                  • Atresia of external auditory canal
                • Downward slanting of palpebral fissures
                • Eyelid colobomas (lid notching)

            IMAGING

            • Ultrasonographic Findings

              • MR Findings

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    CLINICAL ISSUES

                    • Presentation

                      • Demographics

                        • Natural History & Prognosis

                          • Treatment

                            DIAGNOSTIC CHECKLIST

                            • Consider

                              • Image Interpretation Pearls

                                Selected References

                                1. Kadakia S et al: Treacher Collins Syndrome: the genetics of a craniofacial disease. Int J Pediatr Otorhinolaryngol. 78(6):893-8, 2014
                                2. Renju R et al: Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature. Contemp Clin Dent. 5(4):532-4, 2014
                                3. Konstantinidou AE et al: Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype. Birth Defects Res A Clin Mol Teratol. 97(12):774-80, 2013
                                4. Chang CC et al: Treacher collins syndrome. Semin Plast Surg. 26(2):83-90, 2012
                                5. Katorza E et al: Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI. Pediatr Radiol. 41(5):652-7, 2011
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    • Pathology

                                      • Clinical Issues

                                        • Diagnostic Checklist

                                          TERMINOLOGY

                                          • Abbreviations

                                            • Treacher Collins syndrome (TCS)
                                          • Synonyms

                                            • Franceschetti-Klein syndrome
                                            • Berry syndrome
                                          • Definitions

                                            • Mandibulofacial dysostosis
                                            • Characteristic facial features (variable expression)
                                              • Mandible and zygomatic arch hypoplasia
                                              • Abnormal shape, size, and position of auricles
                                                • Atresia of external auditory canal
                                              • Downward slanting of palpebral fissures
                                              • Eyelid colobomas (lid notching)

                                          IMAGING

                                          • Ultrasonographic Findings

                                            • MR Findings

                                              DIFFERENTIAL DIAGNOSIS

                                                PATHOLOGY

                                                • General Features

                                                  CLINICAL ISSUES

                                                  • Presentation

                                                    • Demographics

                                                      • Natural History & Prognosis

                                                        • Treatment

                                                          DIAGNOSTIC CHECKLIST

                                                          • Consider

                                                            • Image Interpretation Pearls

                                                              Selected References

                                                              1. Kadakia S et al: Treacher Collins Syndrome: the genetics of a craniofacial disease. Int J Pediatr Otorhinolaryngol. 78(6):893-8, 2014
                                                              2. Renju R et al: Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature. Contemp Clin Dent. 5(4):532-4, 2014
                                                              3. Konstantinidou AE et al: Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype. Birth Defects Res A Clin Mol Teratol. 97(12):774-80, 2013
                                                              4. Chang CC et al: Treacher collins syndrome. Semin Plast Surg. 26(2):83-90, 2012
                                                              5. Katorza E et al: Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI. Pediatr Radiol. 41(5):652-7, 2011