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Inherited syndrome with mental retardation, cerebellar ataxia, nystagmus, strabismus, and brachydactyly.

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Brachydactyly-Nystagmus-Cerebellar Ataxia Syndrome.

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Only a few cases have been reported (four generations in one family). Transmitted as an autosomal dominant trait.

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Mental retardation, nystagmus, strabismus, and shortening of the metacarpal and metatarsal bones. The posterior column ataxia is characterized by reduced sensory action potentials in nerve conduction tests and ataxia secondary to cerebeliar atrophy.

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No reports exist about this syndrome in the context of anesthesia. Mental retardation can affect the cooperation of the patient, and sedative premedication and/or the presence of the primary care-giver for induction of anesthesia may be helpful.

Biemond A: Brachydactylie, nystagmus en cerebellaire ataxis als familiar syndrome. Ned Tijdschr Geneesk 78:1423, 1934.
Nachmanoff DB, Segal RA, Dawson DM, et al: Hereditary ataxia with sensory neuronopathy: Biemond's ataxia. Neurology 48:273, 1997.  [PubMed: 9008534]

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