Audiologic abnormalities of Fanconi anaemia

The most common audiologic manifestation in Fanconi anaemia (FA) was asymmetrical bilateral conductive hearing loss that was more severe at lower frequencies and in some cases had a progressive character. The routine screening of all patients diagnosed with FA allowed the recognition of mild hearing loss and the prevention of the deleterious effects of its progression with adequate rehabilitation measures.

FA is an autosomal recessive disease characterized by bone marrow failure, multiple congenital anomalies and increased susceptibility to malignancy. Otologic manifestations in FA include morphologic anomalies affecting the ear structures and hearing loss. This report is a retrospective review of the most important features, including audiologic features, in children with FA attending a paediatric hospital.

The medical records of eight patients with FA were reviewed and patient demographics, physical abnormalities, haematological characteristics at diagnosis and otological and audiological features were analysed.

Eight patients (five females, three males), aged between 3 and 13 years old, have been followed for at least 1 year in our hospital. In all, 50% (four of eight) of our population has hearing loss. It is an asymmetrical, bilateral, conductive hearing loss that is more severe at lower frequencies. Two patients (25%) have unilateral type I microtia and stenotic external ear canal.