Vol 11, No 3 (2017)
Case report
Published online: 2017-12-21
Rubinstein-Taybi syndrome associated with breast cancer — a case report
Medycyna Paliatywna w Praktyce 2017;11(3):122-125.
Abstract
A number of cases of Rubinstein-Taybi Syndrome associated with different neoplastic lesions have been reported since this syndrome was first named in 1963. This paper reports a case of Rubinstein-Taybi Syndrome associated with breast cancer. Our aim is to share this finding and to emphasize how this case discussion allowed us to improve the management pathway in the future.
Keywords: diagnosisRubinstein-Taybi syndromebreast cancer
References
- Hallam TM, Bourtchouladze R. Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction. Cell Mol Life Sci. 2006; 63(15): 1725–1735.
- Michail J, Theodorou S. Arched, clubbed thumb in strong abduction-extension & other concomitant symptoms. Rev Chir Orthop Reparatriuce Appar Mot. 1957; 43(2): 142–6.
- S Mishra, S K Agarwalla, D R Potpalle, N N Dash. RSTS with corpus callosum agenesis. Journal of Pediatric Neurosciences • April 2015;Vol. ; 10: 175–176.
- Hennekam RC, Van Doorne JM. Oral aspects of Rubinstein-Taybi syndrome. Am J Med Genet Suppl. 1990; 6: 42–47.
- RUBINSTEIN JH, TAYBI H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child. 1963; 105: 588–608.
- Cassidy S, Allanson J. Management of Genetic Syndromes. 3rd Edition 2010.
- D Milani, F Manzoni, L Pizzani, P Ajmoni, C Gervasini, F Menni, F Esposito. Rubinstein-Taybi Syndrome: Clinical features, genetic bases, diagnosis, and management. Italian Journal of Pediatrics. 2015; 41: 4.
- Imaizumi K, Kuroki Y. Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3). Am J Med Genet. 1991; 38(4): 636–639.
- Hennekam RCM. Rubinstein-Taybi syndrome. Eur J Hum Genet. 2006; 14(9): 981–985.
- Ihara K, Kuromaru R, Takemoto M, et al. Rubinstein-Taybi syndrome: a girl with a history of neuroblastoma and premature thelarche. Am J Med Genet. 1999; 83(5): 365–366, doi: 10.1002/(sici)1096-8628(19990423)83:5<365::aid-ajmg4>3.3.co;2-g.
- Jang YJ, Hee-Hwang S, Hwang YS, et al. Case of Medulloblastoma Associated with Rubinstein-Tybi Syndrome. The Seoul Journal of Medicine. June 1991; Vol 32,No. ; 2: 91–95.
- Bonioli E, Bellini C. Rubinstein-Taybi syndrome and pheochromocytoma. Am J Med Genet. 1992; 44(3): 386.
- Miller RW, Rubinstein JH. Tumors in Rubinstein-Taybi syndrome. Am J Med Genet. 1995; 56(1): 112–115.
- Siraganian PA, Rubinstein JH, Miller RW. Keloids and neoplasms in the Rubinstein-Taybi syndrome. Med Pediatr Oncol. 1989; 17(6): 485–491.
- Agarwal S, Ahmad YH. Talpesh, ARIA Zestos . Anasthetic anagement of Children with Rubinstein-Taybi Syndrome. M E J Anesth. 2011; 21(2): 309–314.
- Patel S, Hakim M, Krishna S, et al. Anesthetic Implications in Rubinstein-Taybi Syndrome. Journal of Medical Cases. 2015; 6(11): 534–536.
