Treacher Collins Syndrome with Patent Ductus Arteriosus: A Case Report

Abstract

Objective: Treacher Collins syndrome or mandibulofacial dysostosis is a rare genetic syndrome characterized by a small mandible and ear anomalies. Some of the patients have congenital heart disease.
Case report: A 10-months old female infant with micrognathia, bilateral conductive hearing loss needing hearing aid, and patent ductus arteriosus is presented. Chromosomal study yielded normal karyotype and Treacher Collins syndrome was the first diagnosed by the genetician. The ductus was occluded by a pfm coil.
Conclusion: In general, patient affected with Treacher Collins syndrome have no mental or skeletal problems and they can be productive members of the society. So diagnosis and treatment of their congenital heart abnormalities has a greater importance in comparison with patients affected by other genetic syndromes