alexa Abstract | Rieger Syndrome: Case Report

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Rieger syndrome is a dysembryogenetic disease in which labyrinthic damage can be associated with other genetic anomalies. The case presented here is of a patient who has bilateral dysgenesis of the iris, with bulbar atrophy and dyscoria. The patient does not present any malformation of the craniofacial structures, of the periumbilical skin, or of the skeletal bones. The case is, therefore, a variant of the Rieger syndrome labeled Axenfeld-Rieger syndrome. The patient reported a progressive sensation of auricular fullness , and liminal audiometry revealed a sensorineural hearing loss. Computed tomography scanning of the temporal bone revealed a bilateral dysmorphism of the acoustic channels. The presence of a bilateral cochleopathy in a patient suffering from the Axenfeld-Rieger syndrome could be the expression of a genetic "disorder." We cannot exclude the possibility also that this genetic anomaly is responsible for the bony dysmorphism of the inner ear channels shown by the computed tomography scan of the temporal bone.

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Author(s): David Megighian Marina Savastano and Paolo Poli


Hearing loss, Rieger syndrome

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