CHARGE syndrome. Part I. External ear anomalies.

Ear anomalies and hearing loss are major components of CHARGE Syndrome. This paper describes the external ear anomalies found in this syndrome: short wide pinnae, often cupped and asymmetrical; distinctive triangular concha; discontinuity between the antihelix and antitragus; and 'snipped-off' portions of the helical folds. The patterns of anomalies are so distinctive that a preliminary diagnosis of CHARGE Syndrome can often be made on the basis of ear shape alone. Part II of this communication describes hearing loss in this syndrome.