Rubinstein - Taybi Sendromu

Year 1974, Volume: 27 Issue: 3-4, 831 - 845, 30.12.1974

Memnune Yüksel

Abstract

İkinci dereceden akraba evliliğinden doğan ve ailenin hem maternal, hem de paternal tarafında 4 kişide polidaktili bulunan bir Rubinstein - Taybi vakası bildirilmiştir. Vakanın klinik, sitogenetik bulguları, anne, babasının ve kendisinin dermatoglifik özellikleri literatürdeki vakalarla karşılaştırılmıştır.

Keywords

Rubinstein-Taybi Sendromu, Mental Gerilik, Geniş Başparmaklar

Ethical Statement

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Supporting Institution

A. Ü. Tıp Fakültesi Çocuk Sağlık ve Hastalıkları Kürsüsü

Project Number

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Thanks

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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

Ethical Statement

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Supporting Institution

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

Project Number

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Thanks

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References

• 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 — Renda, Y. : Rubinstein -Taybi Syndrome. The Turkish J. Pediat. 14: 118, 1972.
• 3 — Johnson, C. F. : Broad thumbs and broad great toes with facial abnormalities and mental retardation. J. Ped. 68942, 1966.
• 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 — 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 — Simpson, N. E. : The Rubinstein -Taybi Syndrome chromosomal studies. Amer. J. Hum. Genet. 25: 230, 1973.
• 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 — Giroux, J., Miller, J. R. : Dermatoglyphics of the broad thumb and great toes syndrome. Amer. J. Dis. Child. 113: 207, 1967.
• 9 — Padfield, C. J., Partington, M. W., Simpson, N. E. : The Rubinstein - Taybi Syndrome. Arch. Dis. Childh. 43:94, 1968.
• 10 — Simpson, N. E., Brissenden, J. E. The Rubinstein - Taybi Syndrome. Familial and Dermatoglyphic data. Amer. J. Hum. Genet. 25: 225, 1973.