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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: Downslanting palpebral fissures, micrognathia, zygomatic & 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
- Beaumont CA et al: Extracraniofacial anomalies in Treacher Collins syndrome: a multicentre study of 248 patients. Int J Oral Maxillofac Surg. ePub, 2021
- Paul A et al: Congenital abnormalities associated with microtia: a 10-years retrospective study. Int J Pediatr Otorhinolaryngol. 146:110764, 2021
- Aljerian A et al: Treacher Collins syndrome. Clin Plast Surg. 46(2):197-205, 2019
- Ginat DT: Imaging findings in syndromes with temporal bone abnormalities. Neuroimaging Clin N Am. 29(1):117-28, 2019
- Rosa F et al: Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome. Acta Otorrinolaringol Esp. 67(3):142-7, 2016
- Kadakia S et al: Treacher Collins syndrome: the genetics of a craniofacial disease. Int J Pediatr Otorhinolaryngol. 78(6):893-8, 2014
- Travieso R et al: A range of condylar hypoplasia exists in Treacher Collins syndrome. J Oral Maxillofac Surg. 71(2):393-7, 2013
- 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
- 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
- Robson CD: Congenital hearing impairment. Pediatr Radiol. 36(4):309-24, 2006
- 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
- 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
- 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: Downslanting palpebral fissures, micrognathia, zygomatic & 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
- Beaumont CA et al: Extracraniofacial anomalies in Treacher Collins syndrome: a multicentre study of 248 patients. Int J Oral Maxillofac Surg. ePub, 2021
- Paul A et al: Congenital abnormalities associated with microtia: a 10-years retrospective study. Int J Pediatr Otorhinolaryngol. 146:110764, 2021
- Aljerian A et al: Treacher Collins syndrome. Clin Plast Surg. 46(2):197-205, 2019
- Ginat DT: Imaging findings in syndromes with temporal bone abnormalities. Neuroimaging Clin N Am. 29(1):117-28, 2019
- Rosa F et al: Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome. Acta Otorrinolaringol Esp. 67(3):142-7, 2016
- Kadakia S et al: Treacher Collins syndrome: the genetics of a craniofacial disease. Int J Pediatr Otorhinolaryngol. 78(6):893-8, 2014
- Travieso R et al: A range of condylar hypoplasia exists in Treacher Collins syndrome. J Oral Maxillofac Surg. 71(2):393-7, 2013
- 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
- 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
- Robson CD: Congenital hearing impairment. Pediatr Radiol. 36(4):309-24, 2006
- 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
- 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
- Taylor DJ et al: Imaging of ear deformities in Treacher Collins syndrome. Clin Otolaryngol Allied Sci. 18(4):263-7, 1993
