Treacher Collins Syndrome (mandibulofacial dysostosis) – A case report

Abstract

Background. Treacher-Collins Syndrome (TCS) (or mandibulofacial dysostosis) is a rare autosomal dominant genetic disorder involving 1st and 2nd branchial arches present with craniofacial deformities with variable expressivity. TCS commonly manifests as facial dysmorphism with varied presentations. In this case report, we demonstrate the typical CT (Computed Tomography) findings of the characteristic features. Case report. Here, we report an 8-year-old boy who presented for evaluation of uneven facial features. Upon a multidisciplinary evaluation, he was diagnosed with TCS, and the characteristic radiological features are described in this report. Conclusions. TCS has a variable degree of phenotypic expression with no related developmental delay or neurologic disorder. Proper counselling, planning, and surgical procedures are necessary for more promising results.

Keywords

• mandibulofacial dysostosis
• branchial region
• craniofacial abnormalities
• computed tomography
• chromosome aberrations