Case Report

Rubinstein - Taybi Syndrome

Volume: 27 Number: 3-4 December 30, 1974
Memnune Yüksel *
EN TR

Rubinstein - Taybi Syndrome

Abstract

A case of Rubinstein - Taybi is presented. The Parents were the second cousins. On both sides of the patient's family there were four cases of polydactilism. The clinical, cytogenetic and dermatoglyphic features of the patient and his parents' are compared with the ones in the literature.

Keywords

Rubinstein-Taybi Syndrome, Mental Retardation, Broad Thumbs

Supporting Institution

Ankara University, Faculty of Medicine, Department of Child Health and Diseases

References

  1. 1 — Rubinstein, H. J., Taybi, H. : Broad thumbs and great toes and facial abnormalities : a possible mental retardation syndrome. Amer. J. Dis. Child. 105: 588, 1963.
  2. 2 — Renda, Y. : Rubinstein -Taybi Syndrome. The Turkish J. Pediat. 14: 118, 1972.
  3. 3 — Johnson, C. F. : Broad thumbs and broad great toes with facial abnormalities and mental retardation. J. Ped. 68942, 1966.
  4. 4 — Van Gelderen, H. H., Gaillard, J. L., Schaberg, A. :Trisomy G/normal mosaics in non - mongoloid mentally deficient children. Acta Paediat. Scand. 56 517, 1967.
  5. 5 — Davison, B. C. C., Ellis, H. L., Kuzemko, J. A., Roberts, D. F. : Mental retardation with facial abnormalities, broad thumbs and toes and unusual dermatoglyphics. Develop Med. Child. Neurol. 9 588, 1967.
  6. 6 — Simpson, N. E. : The Rubinstein -Taybi Syndrome chromosomal studies. Amer. J. Hum. Genet. 25: 230, 1973.
  7. 7 — Berg, J. M., Smith, C. F., Ridler, M. A. C., Dutton, G., Green, E. A., Richards, B. W. : On the association of broad thums and first toes with other physical peculiarities and mental retardation. J. Ment. Defic. Res. 10:204, 1966.
  8. 8 — Giroux, J., Miller, J. R. : Dermatoglyphics of the broad thumb and great toes syndrome. Amer. J. Dis. Child. 113: 207, 1967.
  9. 9 — Padfield, C. J., Partington, M. W., Simpson, N. E. : The Rubinstein - Taybi Syndrome. Arch. Dis. Childh. 43:94, 1968.
  10. 10 — Simpson, N. E., Brissenden, J. E. The Rubinstein - Taybi Syndrome. Familial and Dermatoglyphic data. Amer. J. Hum. Genet. 25: 225, 1973.
APA
Yüksel, M. (1974). Rubinstein - Taybi Syndrome. Ankara Üniversitesi Tıp Fakültesi Mecmuası, 27(3-4), 831-845. https://izlik.org/JA92XA25TD
AMA
1.Yüksel M. Rubinstein - Taybi Syndrome. Ankara Üniversitesi Tıp Fakültesi Mecmuası. 1974;27(3-4):831-845. https://izlik.org/JA92XA25TD
Chicago
Yüksel, Memnune. 1974. “Rubinstein - Taybi Syndrome”. Ankara Üniversitesi Tıp Fakültesi Mecmuası 27 (3-4): 831-45. https://izlik.org/JA92XA25TD.
EndNote
Yüksel M (December 1, 1974) Rubinstein - Taybi Syndrome. Ankara Üniversitesi Tıp Fakültesi Mecmuası 27 3-4 831–845.
IEEE
[1]M. Yüksel, “Rubinstein - Taybi Syndrome”, Ankara Üniversitesi Tıp Fakültesi Mecmuası, vol. 27, no. 3-4, pp. 831–845, Dec. 1974, [Online]. Available: https://izlik.org/JA92XA25TD
ISNAD
Yüksel, Memnune. “Rubinstein - Taybi Syndrome”. Ankara Üniversitesi Tıp Fakültesi Mecmuası 27/3-4 (December 1, 1974): 831-845. https://izlik.org/JA92XA25TD.
JAMA
1.Yüksel M. Rubinstein - Taybi Syndrome. Ankara Üniversitesi Tıp Fakültesi Mecmuası. 1974;27:831–845.
MLA
Yüksel, Memnune. “Rubinstein - Taybi Syndrome”. Ankara Üniversitesi Tıp Fakültesi Mecmuası, vol. 27, no. 3-4, Dec. 1974, pp. 831-45, https://izlik.org/JA92XA25TD.
Vancouver
1.Memnune Yüksel. Rubinstein - Taybi Syndrome. Ankara Üniversitesi Tıp Fakültesi Mecmuası [Internet]. 1974 Dec. 1;27(3-4):831-45. Available from: https://izlik.org/JA92XA25TD