Ataxia, Deafness, And Cardiomyopathy

Jeune et al. (1963) described 2 gypsy sibs who, at about 6 years of age, developed a syndrome that included cerebellar ataxia, progressive sensorineural deafness, mental deficiency, and numerous freckles (or lentigines). The heart was enlarged and heart block developed. Konigsmark and Gorlin (1976) ascertained that a third sib was affected and that other relatives had the same disorder.