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Rubinstein—Taybi's syndrome

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Summary

A case of Rubinstein Taybi's syndrome with classical features is presented. The major diagnostic features are mental retardation with broad thumbs and toes and a characteristic facial appearance consisting of a narrow beaked nose and microcrania with a prominent narrow forehead. The literature is briefly reviewed.

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References

  • Coffin, G.S. (1964). Brachydactyly, peculiar facies and mental retardation.Amer. J Dis. Child,108, 351.

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  • Rubinstein, J.H. and Taybi, H. (1963). Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.Ibid.,105, 588.

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  • Wilson, M.G. (1968). Rubinstein-Taybi and D1 trisomy syndromes.J. Pediat. 73, 404.

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Authors and Affiliations

  1. Madras

    B. R. Santhanakrishnan

Authors
  1. B. R. Santhanakrishnan
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From the Department of Pediatrics, Institute of Child Health and Hospital for Children, Madras-8.

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Santhanakrishnan, B.R. Rubinstein—Taybi's syndrome. Indian J Pediatr 38, 276–278 (1971). https://doi.org/10.1007/BF02813112

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  • DOI: https://doi.org/10.1007/BF02813112

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