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
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
Loading...
Related Differential Diagnoses
Loading...
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
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
STATdx includes over 200,000 searchable images, including x-ray, CT, MR, and ultrasound images. To access all images, please log in or subscribe.