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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
- Zygomatic arch hypoplasia
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
- 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
- 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
- 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
- Kadakia S et al: Treacher Collins syndrome: the genetics of a craniofacial disease. Int J Pediatr Otorhinolaryngol. 78(6):893-8, 2014
- Renju R et al: Mandibulofacial dysostosis (Treacher Collins syndrome): a case report and review of literature. Contemp Clin Dent. 5(4):532-4, 2014
- 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
- Chang CC et al: Treacher collins syndrome. Semin Plast Surg. 26(2):83-90, 2012
- 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
- Zygomatic arch hypoplasia
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
- 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
- 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
- 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
- Kadakia S et al: Treacher Collins syndrome: the genetics of a craniofacial disease. Int J Pediatr Otorhinolaryngol. 78(6):893-8, 2014
- Renju R et al: Mandibulofacial dysostosis (Treacher Collins syndrome): a case report and review of literature. Contemp Clin Dent. 5(4):532-4, 2014
- 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
- Chang CC et al: Treacher collins syndrome. Semin Plast Surg. 26(2):83-90, 2012
- 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
