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Treacher Collins Syndrome
Roya Sohaey, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Treacher Collins syndrome (TCS)
              • Synonyms

                • Franceschetti-Klein syndrome
                • Berry syndrome
              • Definitions

                • Mandibulofacial dysostosis
                • Characteristic facial features with variable expression
                  • Zygomatic arch hypoplasia
                    • Malar hypoplasia
                    • 2° downward-slanting palpebral fissures
                    • Eyelid colobomas (lid notching)
                  • Mandible hypoplasia
                  • Abnormal shape, size, and position of ears
                    • Atresia of external auditory canal common

              IMAGING

              • Ultrasonographic Findings

                • MR Findings

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Staging, Grading, & Classification

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  • Image Interpretation Pearls

                                    Selected References

                                    1. Gilboa Y et al: Imaging of the fetal zygomatic bone: a key role in prenatal diagnosis of first branchial arch syndrome. J Ultrasound Med. 39(11):2165-72, 2020
                                    2. Kubo S et al: Visual diagnosis in utero: prenatal diagnosis of Treacher-Collins syndrome using a 3D/4D ultrasonography. Taiwan J Obstet Gynecol. 58(4):566-9, 2019
                                    3. Mouthon L et al: Prenatal diagnosis of micrognathia in 41 fetuses: retrospective analysis of outcome and genetic etiologies. Am J Med Genet A. 179(12):2365-73, 2019
                                    4. Kadakia S et al: Treacher Collins syndrome: the genetics of a craniofacial disease. Int J Pediatr Otorhinolaryngol. 78(6):893-8, 2014
                                    5. Renju R et al: Mandibulofacial dysostosis (Treacher Collins syndrome): a case report and review of literature. Contemp Clin Dent. 5(4):532-4, 2014
                                    6. 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
                                    7. Chang CC et al: Treacher collins syndrome. Semin Plast Surg. 26(2):83-90, 2012
                                    8. 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

                                        • Top Differential Diagnoses

                                          • Pathology

                                            • Clinical Issues

                                              • Diagnostic Checklist

                                                TERMINOLOGY

                                                • Abbreviations

                                                  • Treacher Collins syndrome (TCS)
                                                • Synonyms

                                                  • Franceschetti-Klein syndrome
                                                  • Berry syndrome
                                                • Definitions

                                                  • Mandibulofacial dysostosis
                                                  • Characteristic facial features with variable expression
                                                    • Zygomatic arch hypoplasia
                                                      • Malar hypoplasia
                                                      • 2° downward-slanting palpebral fissures
                                                      • Eyelid colobomas (lid notching)
                                                    • Mandible hypoplasia
                                                    • Abnormal shape, size, and position of ears
                                                      • Atresia of external auditory canal common

                                                IMAGING

                                                • Ultrasonographic Findings

                                                  • MR Findings

                                                    DIFFERENTIAL DIAGNOSIS

                                                      PATHOLOGY

                                                      • General Features

                                                        • Staging, Grading, & Classification

                                                          CLINICAL ISSUES

                                                          • Presentation

                                                            • Demographics

                                                              • Natural History & Prognosis

                                                                • Treatment

                                                                  DIAGNOSTIC CHECKLIST

                                                                  • Consider

                                                                    • Image Interpretation Pearls

                                                                      Selected References

                                                                      1. Gilboa Y et al: Imaging of the fetal zygomatic bone: a key role in prenatal diagnosis of first branchial arch syndrome. J Ultrasound Med. 39(11):2165-72, 2020
                                                                      2. Kubo S et al: Visual diagnosis in utero: prenatal diagnosis of Treacher-Collins syndrome using a 3D/4D ultrasonography. Taiwan J Obstet Gynecol. 58(4):566-9, 2019
                                                                      3. Mouthon L et al: Prenatal diagnosis of micrognathia in 41 fetuses: retrospective analysis of outcome and genetic etiologies. Am J Med Genet A. 179(12):2365-73, 2019
                                                                      4. Kadakia S et al: Treacher Collins syndrome: the genetics of a craniofacial disease. Int J Pediatr Otorhinolaryngol. 78(6):893-8, 2014
                                                                      5. Renju R et al: Mandibulofacial dysostosis (Treacher Collins syndrome): a case report and review of literature. Contemp Clin Dent. 5(4):532-4, 2014
                                                                      6. 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
                                                                      7. Chang CC et al: Treacher collins syndrome. Semin Plast Surg. 26(2):83-90, 2012
                                                                      8. 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