Spectrum of Otological Manifestations in Treacher Collins Syndrome: A Case Series of 9 Patients.

Abstract

Treacher Collins syndrome (TCS) is an uncommon congenital disorder predominantly involving craniofacial, orbital, and otological structures. The various ear malformations seen in 9 patients with TCS are described. TCS predominantly affects the external and middle ear structures, with inner ear structures being relatively spared, not unexpected given the dual embryological origin of the human ear. The external and middle ear malformations were categorized and graded as those involving the ear pinna, external auditory canal, tympanic cavity, ossicles, facial nerve canal, oval window, and bony labyrinth for all 9 patients. The ear malformations were symmetric in the majority, and the patients with higher grades of microtia were found to have a more severe category of other otological malformations.