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Treacher Collins Syndrome
Bernadette L. Koch, MD; Caroline D. Robson, MBChB; Dania Tamimi, BDS, DMSc
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Treacher Collins syndrome (TCS)
                • Nager syndrome (NS): TCS-like + limb anomalies
              • Synonyms

                • Treacher Collins-Franceschetti, mandibulofacial dysostosis
                • NS: Acrofacial dysostosis
              • Definitions

                • Craniofacial malformation: Down-slanting palpebral fissures, micrognathia, zygomatic and malar hypoplasia, microtia ± limb defects

              IMAGING

              • General Features

                • Imaging Recommendations

                  • CT Findings

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Gross Pathologic & Surgical Features

                          CLINICAL ISSUES

                          • Presentation

                            • Treatment

                              DIAGNOSTIC CHECKLIST

                              • Consider

                                Selected References

                                1. Aljerian A et al: Treacher Collins syndrome. Clin Plast Surg. 46(2):197-205, 2019
                                2. Ginat DT: Imaging findings in syndromes with temporal bone abnormalities. Neuroimaging Clin N Am. 29(1):117-28, 2019
                                3. Rosa F et al: Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome. Acta Otorrinolaringol Esp. 67(3):142-7, 2015
                                4. Kadakia S et al: Treacher Collins syndrome: the genetics of a craniofacial disease. Int J Pediatr Otorhinolaryngol. 78(6):893-8, 2014
                                5. Travieso R et al: A range of condylar hypoplasia exists in Treacher Collins syndrome. J Oral Maxillofac Surg. 71(2):393-7, 2013
                                6. Bernier FP et al: Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet. 90(5):925-33, 2012
                                7. Dauwerse JG et al: Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet. 43(1):20-2, 2011
                                8. Robson CD: Congenital hearing impairment. Pediatr Radiol. 36(4):309-24, 2006
                                9. Teber OA et al: Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet. 12(11):879-90, 2004
                                10. Wise CA et al: TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proc Natl Acad Sci U S A. 94(7):3110-5, 1997
                                11. Taylor DJ et al: Imaging of ear deformities in Treacher Collins syndrome. Clin Otolaryngol Allied Sci. 18(4):263-7, 1993
                                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)
                                              • Nager syndrome (NS): TCS-like + limb anomalies
                                            • Synonyms

                                              • Treacher Collins-Franceschetti, mandibulofacial dysostosis
                                              • NS: Acrofacial dysostosis
                                            • Definitions

                                              • Craniofacial malformation: Down-slanting palpebral fissures, micrognathia, zygomatic and malar hypoplasia, microtia ± limb defects

                                            IMAGING

                                            • General Features

                                              • Imaging Recommendations

                                                • CT Findings

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      • Gross Pathologic & Surgical Features

                                                        CLINICAL ISSUES

                                                        • Presentation

                                                          • Treatment

                                                            DIAGNOSTIC CHECKLIST

                                                            • Consider

                                                              Selected References

                                                              1. Aljerian A et al: Treacher Collins syndrome. Clin Plast Surg. 46(2):197-205, 2019
                                                              2. Ginat DT: Imaging findings in syndromes with temporal bone abnormalities. Neuroimaging Clin N Am. 29(1):117-28, 2019
                                                              3. Rosa F et al: Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome. Acta Otorrinolaringol Esp. 67(3):142-7, 2015
                                                              4. Kadakia S et al: Treacher Collins syndrome: the genetics of a craniofacial disease. Int J Pediatr Otorhinolaryngol. 78(6):893-8, 2014
                                                              5. Travieso R et al: A range of condylar hypoplasia exists in Treacher Collins syndrome. J Oral Maxillofac Surg. 71(2):393-7, 2013
                                                              6. Bernier FP et al: Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet. 90(5):925-33, 2012
                                                              7. Dauwerse JG et al: Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet. 43(1):20-2, 2011
                                                              8. Robson CD: Congenital hearing impairment. Pediatr Radiol. 36(4):309-24, 2006
                                                              9. Teber OA et al: Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet. 12(11):879-90, 2004
                                                              10. Wise CA et al: TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proc Natl Acad Sci U S A. 94(7):3110-5, 1997
                                                              11. Taylor DJ et al: Imaging of ear deformities in Treacher Collins syndrome. Clin Otolaryngol Allied Sci. 18(4):263-7, 1993