The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome)

Abstract

Bilateral conductive deafness is common in mandibulofacial dysostosis with or without atresia of the external auditory meatus. This deafness is due to a wide range of deformities of the ossicular chain associated with a characteristic reduction in the size of the middle ear cavity. The attic and antrum are particularly affected and usually have a slit-like appearance on coronal section tomograms. The inner ear is essentially normal. The tomographic appearances of 44 ears from 22 patients with mandibulofacial dysostosis are described as well as the operative findings in 14. These were correlated with induced ear deformities in an animal model that had features characteristic of human mandibulofacial dysostosis. A review of the findings in the animal model suggests a very close correspondence with the human ear anomalies described at radiological investigation, operation and post-mortem examination. The lesions are largely symmetrical and this, with the characteristic slit attic, helps to differentiate mandibulofacial dysostosis from lesions with different aetiology but similar features such as facial microsomia. The prospects for surgical correction of the deafness in mandibulofacial dysostosis range from very good in mild cases with ossicular discontinuity, to poor where there is severe atresia. The importance of tomograms at an early age is stressed.

Treacher Collins syndrome: etiology, pathogenesis and prevention

“…10 Consequently, bilateral conductive hearing loss is common in TCS patients, whereas mixed or sensorineural hearing loss is rare. 11 …”

Joint formation in the middle ear: Lessons from the mouse and guinea pig

“…In many hearing disorders, the malleus and incus are malformed and/or the ossicles are fused (Mayer et al, 1997). For example, in patients with Treacher Collins syndrome (TCS), the malleus and incus are united into a single complex in almost 100% of cases (Phelps et al, 1981;Jahrsdoerfer et al, 1989;Takegoshi et al, 2000). Fusion of the malleus and incus is also observed in patients with Branchio-Oto-Renal (BOR) syndrome, although these fusions are complicated by additional defects in the inner ear (Melnick et al, 1976).…”

Nanomaterials for cartilage tissue engineering

“…Nasal fractures account for half of all facial fractures [5]. In addition, malformations of the nose and ear are found in congenital disorders that are characterized by facial malformations, such as Treacher Collins syndrome and Apert syndrome [6,7]. These malformations may also require cartilage reconstruction.…”