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Syndrome de Rubinstein-Taybi

Syndrome of Rubinstein-Taybi

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Summary

Description of a girl showing a broad thumbs syndrome of Rubinstein-Taybi with high myopia, strabismus and ovarian cyst.

Résumé

Description d'une fillette atteinte de syndrome de Rubinstein-Taybi avec haute myopie, strabisme et kyste ovarien.

Zusammenfassung

Es wird der Fall eines Mädchens dargelegt, welches zu den Symptomen des Rubinstein-Taybi-Syndroms eine hohe Myopie, einen Strabismus und eine Ovarialcyste aufweist.

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Bibliographie

  • Amman, F.: Investigations cliniques et génétiques sur le syndrome de Bardet-Biedl en Suisse. J. Génét. hum., suppl. au vol. 18, 225–235 (1970)

    Google Scholar 

  • Der Kaloustian, V., Afifi, A., Sinno, A., Andonian, K.: The Rubinstein-Taybi syndrome: a genetic disease? Comm. au 4e Congr. internat. de Génét. hum., Paris, 6–11. IX. 1971. Réf.: Excerpta med. (Amst.) Internat. Congr. Ser. 233, 56 (1971)

    Google Scholar 

  • Duke-Elder, W. S.: System of ophthalmology. Normal and abnormal development, Part I, Embryology, p. 310. London: Kimpton 1963

    Google Scholar 

  • Harper, W. H., Laing, C. R.: Rubinstein-Taybi syndrome. Broad thumbs and toes, facial abnormalities and mental retardation. Ariz. Med., June, 536–540 (1967)

  • Hoevels, O.: Zur Systematik der Mißbildungen des 1. Visceralbogens unter besonderer Berücksichtigung der Dysostosis mandibulo-facialis. Z. Kinderheilk. 73, 532–567 (1953a)

    Google Scholar 

  • Hoevels, O.: Zur Pathogenese der Mißbildungen des 1. Visceralbogens. Z. Kinderheilk. 73, 568–588 (1953b)

    Google Scholar 

  • Joehr, P.: Valeurs moyennes et limites normales, en fonction de l'âge, de quelques mesures de la tête et de la région oculaire. Thèse de Genève No 2177, 1953. J. Génét. hum. 2, 247–282 (1953)

    Google Scholar 

  • Johnson, C. F.: Broad thumbs and great toes with facial abnormalities and mental retardation. J. Pediat. 68, 942 (1966). (Cité par Rubinstein, 1969)

    Google Scholar 

  • Klein, D., Ammann, F.: The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies. J. Neurol. Sci. 9, 479–513 (1969)

    Google Scholar 

  • Kroth, H. von: Cornelia de Lange-Syndrom I bei Zwillingen. Arch. Kinderheilk. 173, 273 (1966). (Cité par Rubinstein, 1969)

    Google Scholar 

  • Martin, R.: Lehrbuch der Anthropologie in systematischer Darstellung, I. Bd, Somatologie. Jena: Fischer 1928

    Google Scholar 

  • Martin, R.: Anthropometrie, 2. Aufl. Berlin: Springer 1929

    Google Scholar 

  • Martin du Pan, R.: Tables de mensurations des tailles et poids de la naissance à 20 ans chez les enfants de la ville de Genève. Schweiz. Ärzteztg. 35, 2–5 (1954)

    Google Scholar 

  • Pfeifer, G.: Die Entwicklungsstörungen des Gesichtsschädels als Klassifikationsproblem. Dtsch. Zahn-, Mund- u. Kieferheilk. 48, 22–40 (1967)

    Google Scholar 

  • Rubinstein, J. H.: The broad thumbs syndrome. Progress report 1968. In: Birth Defects: original article series V, 25–41 (1969)

  • Rubinstein, J. H.: Comm. pers. 1971

  • Rubinstein, J. H., Taybi, H.: Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Amer. J. Dis. Child. 105, 588–608 (1963)

    Google Scholar 

  • Simpson, N. E.: The Rubinstein-Taybi syndrome: evidence for a partial D trisomy usually in the form of a reciprocal translocation with monosomy. Comm. an 4e Congr. internat. de Génét. hum., Paris, 6–11. IX. 1971. Réf.: Excerpta med. (Amst.) Internat. Congr. Ser. 233, 166 (1971)

    Google Scholar 

  • Smith, D. W.: Multiple malformation syndromes. J. Pediat. 71, 923 (1967). (Cité par Rubinstein, 1969)

    Google Scholar 

  • Smith, D. W.: Rubinstein-Taybi syndrome. In: Recognizable patterns of human malformation. Genetic, embryologic, and clinical aspects, pp. 64–65. Philadelphia-London-Toronto: Saunders 1970

    Google Scholar 

  • Takeuchi, M.: Rubinstein's syndrome in two siblings. Gunma. J. med. Sci. 15, 17 (1966). (Cité par Rubinstein, 1969)

    Google Scholar 

  • Taybi, H., Rubinstein, J. H.: Broad thumbs and toes and unusual facial features. A probable mental retardation syndrome. Amer. J. Roentgenol. 93, 362 (1965)

    Google Scholar 

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Felgenhauer, WR. Syndrome de Rubinstein-Taybi. Hum Genet 20, 63–69 (1973). https://doi.org/10.1007/BF00280878

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  • DOI: https://doi.org/10.1007/BF00280878

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