Paper
CHARGE syndrome. Part I. External ear anomalies

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Summary

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.

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    Hearing loss is observed in 60–90% of patients and it can be conductive, sensorineural or mixed [29], and anomalies are in every segment of the auditory system, from the external ear to the brainstem. External ear anomalies are very characteristic (the so-called “CHARGE ear”): small misshapen pinnae, which are low-set, anteverted, cup-shaped, and widened with reduced vertical height, are present in 95 %–100 % of patients [30]. CT scans of the middle ear show underdeveloped middle ear cavities, hypoplasia of the incus and stapes, ankylosis of the ossicles to the epitympanic wall, absence of pyramidal eminence and stapedius muscle, atresia/hypoplasia of the round and oval windows and an abnormal course of the tympanic facial nerve [27,31] (Fig. 5A and B); among these, a hypoplastic incus has been considered the most particular to CHARGE syndrome [20,29,32].

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