A fanconi anemias pationt with bilateral totall hearing loss
Fanconi anemia (FA) is an autosomal recessive genetic disorder wich characterized by progressive pancytopenia, multiple congenital anomalies, increased susceptibility to acute myelogenous leukemia and epithelial cancers specially in head and neck and GUT. Characteristic feature of FA include short stature, café-au-laitspots, small eyes, mental retardation, skeletal and ear anomalies.Case: A 23-year-old man who was a known case of FA since he was ten reffered to audiology clinic because of severe hearing loss. His initial diagnosis was pneumonia. Audilogic evaluation revealed bilateral profound hearing loss.
One of the anomalies in FA are ear anomalies. These included conductive haering loss, external auditory canal stenosis and auricular malformation and progressive sensoryneural hearing loss. In this report external auditory canal and tympanic membrane were normal. The result of tympanometry were type An and audiometry were bilateral profound hearing loss that is a rare finding in FA patient.
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