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At a glance

A bipolar syndrome involving the eyes and the extremities.

Synonym

Oculo-Digital Syndrome.

Incidence

A single case of a girl from consanguineous parents has been reported.

Genetic inheritance

Most likely autosomal recessive transmission.

Clinical aspects

The disease affects the eyes with cataract, microphthalmos, retinal dysplasia, corneal clouding, and vision loss. The limbs show irregular length of the fingers with brachydactyly and terminal hypoplasia, and clinodactyly of the fifth finger. The fingernails are either absent or small and dysplastic.

Precautions before anesthesia

Routine preoperative assessment is considered adequate.

Anesthetic considerations

Anesthesia in this condition has not been described. The features of the disease do not suggest that specific anesthesia precautions are required.

Pharmacological implications

None specific to this syndrome.

Reference

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Chemke  J, Oliver  M, Mallek  D, Kaveh  Z: Multiple ophthalmic anomalies and digital hypoplasia. J Genet Hum 26:17–24, 1978.  [PubMed: 97363]

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