AN EXTREMELY RARE RECESSIVE HEREDITARY SYNDROME INCLUDING CEREBELLAR ATAXIA, OLIGOPHRENIA, CATARACT, AND OTHER FEATURES

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Abstract
A rare herditary syndrome detd. by a single autosomal recessive gene is descr. in 2 first cousins with high incidence of parental consanguinity. There was congenital and stationary cerebellar ataxia with evidence of pyramidal involvement, moderate oligophrenia, childhood cataract progressing to blindness, and multiple skeletal anomalies. All such patients are undersized and some have vascular hypertension.