Audiologic findings in Saethre-Chotzen syndrome.

BACKGROUND: Hearing loss has been described in Apert syndrome but is poorly documented in other craniosynostosis disorders.

METHODS: The authors retrospectively reviewed the audiologic and otologic records of patients with Saethre-Chotzen syndrome to define the incidence, type, and extent of hearing loss. Only patients with documented audiologic examinations were included. Hearing loss was categorized by American Speech-Language-Hearing Association guidelines (i.e., mild, 26 to 40 dB; moderate, 41 to 55 dB; moderate/severe, 56 to 70 dB; severe, 71 to 90 dB; and profound, >90 dB).

RESULTS: Twenty-nine patients met inclusion criteria. Mean age at initial audiologic evaluation was 6.7 years (range, 0.7 to 24.5 years). Seventeen patients (59 percent) had at least one abnormal audiogram; in 15 patients, the deficit was mild. Eight patients demonstrated sensorineural hearing loss. Five cases resolved and, thus, had been mischaracterized. Six patients had conductive hearing loss on at least one examination; follow-up testing in four patients revealed normal hearing. Two patients had unspecified hearing loss by sound field method. One patient had mixed hearing loss on consecutive audiograms. Twenty-one patients (72 percent) had normal hearing on their last audiogram.

CONCLUSIONS: Most patients with Saethre-Chotzen syndrome had hearing loss at some point during childhood. This was typically mild and correlated with middle ear abnormality and eustachian tube dysfunction. Usually, the hearing deficit resolved. Early mischaracterization of mixed hearing loss or conductive hearing loss as sensorineural hearing loss was common.