An Extremely Rare Recessive Hereditary Syndrome Including Cerebellar Ataxia, Oligophrenia, Cataract, and Other Features

caracterisee par une cataracte congenitale et un arret du developpement somato-neuropsychique " a paper was written by Marinesco, Draganesco, and Vasiliu in 1931 describing four siblings clearly suffering from the same disorder, a syndrome which had not been previously described. Sjogren (1950) reported 14 similar patients, discovered after pains-taking search throughout Sweden, and he believed this to be only the second time the syndrome had been observed; he, however, was able to prove beyond doubt that this is a hereditary disorder, due to a single autosomal recessive gene and frequently resulting from consanguineous marriage. In 1933 one of us was asked by Professor C. W. Vining to examine two children then under his care. They were first cousins apparently suffering from an identical and congenital syndrome. There was a remarkable history of consanguinity in the family but at that time it was not clear whether the disorder, in all its aspects, was stationary, and it was difficult to assess the intellectual level of the patients. They were not seen again until one of them was referred to us in 1951. It was then possible to make a more accurate clinical assessment, and both were admitted