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Genetic disorder with mental retardation, cataract, deafness, and polyneuropathy.

Polyneuropathy Cataract Deafness Syndrome; Cataract Ataxia Deafness Retardation Syndrome.

Only two sibs have been described. Autosomal recessive inheritance was suspected.

Two adult sisters with mild mental retardation and ataxia, presumably as a result of impaired proprioception, were described. Both siblings had congenital cataracts and were of short stature during childhood. Progressive sensorineural deafness developed in the third decade of life.

Appropriate anxiolysis may be helpful in the presence of developmental delay and hearing loss, but no other specific anesthetic implications are expected.

Reardon Wilson Cavanagh Syndrome: Similar features are seen in this syndrome. However, in contrast to Beeger syndrome the onset of hearing loss is in infancy, and there is no association with congenital cataract.

Begeer JH, Scholte FA, van Essen AJ: Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy. J Med Genet 28:884, 1991.  [PubMed: 1661780]

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