Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2005 Jan-Feb;71(1):107-10.
doi: 10.1016/s1808-8694(15)31296-9. Epub 2006 Jan 2.

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

Eduardo C Andrade  1 , Vanier S Júnior, Ana L S Didoni, Priscila Z Freitas, Araken F Carneiro, Fabiana R Yoshimoto
Affiliations
Case Reports

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

Eduardo C Andrade et al. Braz J Otorhinolaryngol. 2005 Jan-Feb.

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.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Clinical signs of Treacher Collins' syndrome.
Figure 2
Figure 2
Clinical signs of Treacher Collins' syndrome (profile).
Figure 3
Figure 3
CT scan showing choanal atresia (predominance of bone tissue on the right lamina) –axial section.
Figure 4
Figure 4
CT scan showing choanal atresia (predominance of bone tissue on the left lamina) –axial section.
Figure 5
Figure 5
Results post-advanced mentoplasty.
See this image and copyright information in PMC

References

    1. Marres HAM, Cremers CWRJ, Dixon MJ, Huygen PLM, Joosten FBM. The Treacher Collins syndrome: a clinical, radiological, and genetic linkage study on two pedigrees. Arch Otolaryngol Head Neck Surg. 1995;121(5):509–514. - PubMed
    1. Dixon MJ. Treacher Collins syndrome. J Med Genet. 1995;32(10):806–808. - PMC - PubMed
    1. Anil S, Beena VT, Ankathil R, Remani P, Vijayakumar T. Mandibulofacial dysostosis: case report. Aust Dent. 1995;40(1):39–42. - PubMed
    1. Aguiar RS, Santos CS. Síndrome de Treacher Collins. Rev Port Estomatol Cir Maxilofac. 1989;30(2):137–142. - PubMed
    1. Posnick JC. Treacher Collins syndrome: perspectives in evaluation and treatment. J Oral Maxilofac Surg. 1997;55(10):1120–1133. - PubMed

Publication types

LinkOut - more resources