Hearing Loss in Treacher-Collins Syndrome

Abstract

Abstract Treacher Collins Syndrome is a craniofacial disorder that has dominant autosomal disorder in facial development, found 1 in every 50,000 births. The common manifestations can be mandibulofacial disorder, microtia, atresia of the ear canal, and hearing loss. This syndrome is also accompanied by malformations of the ossicular chain of bone in the middle ear, which can lead to conductive hearing loss up to 50% of cases and sensory neural hearing loss. The aim of this report was to present one case of Treacher-Collins Syndrome at the Audiology - Vestibular clinic Dr. Hasan Sadikin General Hospital Bandung. The main complaint of the patient is micrognathia and microtia with hearing loss in both ears. The right ear is smaller than the left ear, and supported to 2nd grade of Microtia. The patient had performed reconstruction ear surgery in the right ear, and had improvement from audiological examination after the 2nd stage of reconstruction. There was TCOF 1 gene mutation involved from this case. Conclusion: Treacher Collins syndrome is a rare inherited disorder, but the diagnose can be easily enforced. Early intervention with hearing rehabilitation, audio-verbal rehabilitation, and reconstruction ear surgery must be carried out for a better quality of life. Keyword : Treacher collins syndrome, micrognathia, microtia, hearing loss