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  • Title: Rubinstein-Taybi syndromes: broad thumbs and great toes, facial abnormalities and mental retardation. aA presentation of three cases.
    Author: McArthur RG.
    Journal: Can Med Assoc J; 1967 Feb 25; 96(8):462-6. PubMed ID: 6019962.
    Abstract:
    In 1963 Rubinstein and Taybi described, in seven children, a new symptom-complex characterized by broad thumbs and great toes, facial abnormalities, mental retardation and a cluster of congenital malformations. Since then 14 additional cases have been reported. In this paper three more such children are described. Chromosome studies were normal. The etiology of this disorder is unknown but it is probably genetic.
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