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.
D000015:Abnormalities, Multiple; D002648:Child; D003103:Coloboma / Q000150:complications; D004431:Ear, External / Q000002:abnormalities*; D005835:Genitalia / Q000002:abnormalities; D006130:Growth Disorders / Q000150:complications; D006311:Hearing Disorders / Q000150:complications; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D013577:Syndrome