Abstract
We encountered two patients who showed the characteristic features of the Marinesco-Sjögren syndrome.
They showed cerebellar ataxia, congenital cataract and retarded physical and mental maturation.
Pes planovalgus and brachydactylia of 4th toe were seen in both cases. In addition, elongation of the index finger was found in one case.
The finding of pneumoventriculography showed the atrophy of the cerebellum.
Their parents were consanguineous.
