The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome)

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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. Ears (44) from 22 patients with mandibulofacial dysostosis were analyzed by tomography and were explored by surgery. These were correlated with induced ear deformities in an animal model [rat] with characteristic features of human mandibulofacial dysostosis. The animal model exhibited a very close correspondence with the human ear anomalies described by radiology, operation and post-mortem examination. The lesions were largely symmetrical. The characteristic slit attic and symmetrical lesions helped differentiate mandibulofacial dysostosis from lesions with different etiology but similar features, e.g., facial microsomia. The prospects for surgical correction of the deafness in mandibulofacial dysostosis ranged from very good in mild cases with ossicular discontinuity, to poor where there was severe atresia. Tomograms were valuable at an early age.