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Ear abnormality in a child with Pfeiffer syndrome

The authors describe the clinical case of a child with Pfeiffer syndrome and conductive hearing loss due to external auditory canal bone atresia. Pfeiffer syndrome, or acrocephalosyndactyly, is a rare genetic anomaly inherited by the autosomal dominant type, it has many associated symptoms, for example the fusion of skull bones, which causes high intracranial pressure, exophthalmos, narrow upper jaw, disorder of growth and development of teeth, strabism. Half of the children with this anomaly have hearing loss. The patients with impaired hearing need an audiological examination to determine the degree of hearing loss and further rehabilitation measures. We have registered short-latency auditory evoked potentials by air and bone sound conduction of a 6-year-old patient with acrocephalosyndactyly. The method of rehabilitation was the wrap-around bone conduction transducer.