Treacher Collins Syndrome with choanal atresia: a case report and review of disease features

Abstract

Treacher Collins Syndrome--or mandibulofacial dysostosis--is a rare condition that presents several craniofacial deformities of different levels. This is a congenital malformation involving the first and second branchial arches. Incidence is estimated to range between 1-40,000 to 1-70,000 of live births. The disorder is characterized by abnormalities of the auricular pinna, hypoplasia of facial bones, antimongoloid slanting palpebral fissures with coloboma of the lower eyelids and cleft palate. Treacher Collins Syndrome is rarely associated with choanal atresia. A multidisciplinary team, including craniofacial surgeon, ophthalmologist, speech therapist, dental surgeon and otorhinolaryngologist, is the most appropriate setting to manage these patients. This study reports a rare case of Treacher Collins Syndrome with choanal atresia, presenting literature review and multidisciplinary intervention.

Figure 1

Clinical signs of Treacher Collins' syndrome.

Figure 2

Clinical signs of Treacher Collins' syndrome (profile).

Figure 3

CT scan showing choanal atresia (predominance of bone tissue on the right lamina) –axial section.

Figure 4

CT scan showing choanal atresia (predominance of bone tissue on the left lamina) –axial section.

Figure 5

Results post-advanced mentoplasty.