Abstract
Background: Treacher-Collins syndrome (TCS), additionally known as Franceschetti syndrome or mandibulofacial dysostosis, is an unusual craniofacial development defect that occurs in approximately one out of every 50,000 childbirths. Deafness, bilateral auricular anomalies and facial bone hypoplasia are its distinguishing features. Four genes control its inheritance: TCOF1, POLR1C, POLR1D, and POLR1B. Clinical symptoms are the primary determinant of diagnosis; however, genetic studies can help confirm it.
Objective: The aim of this case report was to evaluate the hearing thresholds in a pediatric patient with Treacher Collins syndrome who presented to a private outpatient audiology clinic.
Methodology: Our case report was conducted at the Audiology Centre in Lahore in late 2024. A detailed history-taking of the patient was obtained. A patient with Treacher-Collins syndrome underwent various tests, including otoscopy, immittance audiometry, transient evoked otoacoustic emissions (TEOAEs), and auditory brainstem response audiometry (ABR). Consent was obtained from parents.
Results & Findings: A patient, a 5-month-old female infant, underwent immittance audiometry, which showed bilateral flat (B low) tympanograms with reduced ear canal volume. Transient evoked otoacoustic emissions (TEOAEs) were referred bilaterally. ABR displayed Wave V with clear responses that were reliable and reproducible at 60 dBnHL via air conduction in both ears and at an intensity of 30 dBnHL in BC-ABR, giving us a diagnosis of bilateral moderate conductive hearing loss. CT and MRI imaging revealed that ossicles in the right middle ear were difficult to appreciate, non-aerated mastoids bilaterally, and asymmetrical canals with significant stenosis in the right ear. The cochlea and internal auditory canals were well-formed, but anomalies in the external ear were noted.
Conclusion: This case report presents a significant bilateral conductive hearing loss in a 5- month -old female diagnosed with Treacher-Collins syndrome (TCS). Management involves bone conduction hearing aids, supportive therapies, and regular follow-ups. This case highlights that early intervention and appropriate support can significantly enhance the quality of life for TCS patients.