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