OBJECTIVES: To identify and define the otologic manifestations in patients with Fanconi anemia. DESIGN: Retrospective case series. SETTING: Tertiary referral center. PATIENTS: 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.
OBJECTIVES: To identify and define the otologic manifestations in patients with Fanconi anemia. DESIGN: Retrospective case series. SETTING: Tertiary referral center. PATIENTS: 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.