Epilepsy-telangiectasia syndrome

Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.

Conjunctival telangiectasia

The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.


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