Seven cases of the syndrome first described by Rubinstein and Taybi in 1963 are presented. This condition is characterized by broad thumbs and first toes, mental retardation, facial abnormalities and other minor malformations. Personal and family histories, clinical features, detailed radiologic finClings, and chromosome studies are reported. The dermatoglyphic patterns of the patients are described and compared with previously published data. The etiology of the syndrome is unknown; however, there is some evidence to suggest a genetic basis.
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Giorgio Filippi (1972) studied this question.
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