Temporal bone histopathology of atresia auris congenita with chromosome aberration

Temporal bone findings in two infants demonstrating congenital aural atresia with microtia were presented focusing mainly on the external and middle ears. These two cases were proved to have chromosome aberration that is, 13-15 trisomy and extra chromosome in group G individually. Temporal bones showed the multiple anomalies through the external, middle and internal ears. The external canals were filled with connective tissue in one case and with bony plate in the other to form aural atresia. There were no development of the tubotympanic recess in a case of 13-15 trisomy. The oval window area in both cases was poorly developed resulting in a connective tissue fissure in the lateral wall of the vestibule except for one ear, while the round windows were normally formed in all ears. The facial nerves showed an abnormal running course without forming the geniculate ganglion and the horizontal segment. These findings indicate that the structures derived from the second branchial arch might be more deeply involved than the first one in the congenital aural atresia.