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

Eduardo C Andrade,Vanier S Júnior,Ana L.S Didoni,Priscila Z Freitas,Araken F Carneiro,Fabiana R Yoshimoto

doi:10.1016/s1808-8694(15)31296-9

Abstract

SummaryTreacher 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.

Highlights

Thomson firstly referred to this syndrome in 1846, it was E
Treacher Collins syndrome, the favorite eponym used by the English literature, is referred as mandibulofacial dysostosis, Berry’s syndrome and Franceschetti-Zwahlen-Klein syndrome[1,2,3,4]
Treacher Collins syndrome gene was mapped on distal portion of the long arm of chromosome 5 (5q31.3-q33.3)

Summary

– 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 170,000 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.

INTRODUCTION

Findings

A CASE REPORT

DISCUSSION