Otologic manifestations of Fanconi anemia.
OBJECTIVE
To identify and define the otologic manifestations in patients with Fanconi anemia.


METHODS
Retrospective case series.


METHODS
Tertiary referral center.


METHODS
Sixty-nine patients in all age groups who received a diagnosis of Fanconi anemia with or without otologic presentation.


METHODS
Medical records, audiograms, and tympanograms of all patients were reviewed. Data were analyzed and compared with the literature.


RESULTS
Of 69 patients with Fanconi anemia, many had morphologic anomalies affecting the structures of the ear and the head and neck. Conductive hearing loss, external auditory canal stenosis, and auricular malformation were among the most common.


CONCLUSIONS
Fanconi anemia is a clinically heterogenous disorder. Conductive hearing loss, external auditory canal stenosis, and auricular malformations are the most common otologic presentations but are not present in the majority of patients.
Santos
Felipe
F
Department of Otorhinolaryngology, Weill College of Medicine of Cornell University, New York, New York, USA.
Selesnick
Samuel H
SH
Glasgold
Robert A
RA
D000158:Acoustic Impedance Tests; D001301:Audiometry, Pure-Tone; D001309:Auditory Threshold / Q000502:physiology; D002648:Child; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D004423:Ear / Q000002:abnormalities*; D004424:Ear Canal / Q000002:abnormalities; D005199:Fanconi Anemia / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006314:Hearing Loss, Conductive / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D012189:Retrospective Studies