Rubinstein-Taybi Syndrome: Multimedia

References

1. Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. Am J Dis Child. 1963;105:588-608.

2. Foley P, Bunyan D, Stratton J, Dillon M, Lynch SA. Further case of Rubinstein-Taybi syndrome due to a deletion in EP300. Am J Med Genet A. May 2009;149A(5):997-1000. [Medline].

3. Wiley S, Swayne S, Rubinstein JH, et al. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet A. Jun 1 2003;119(2):101-10. [Medline].

4. Hosek J, Borkova A. [The Rubinstein-Taybi syndrome or a broad thumb-hallux syndrome]. Cas Lek Cesk. 2008;147(3):136-40. [Medline].

5. Balci S, Ergun MA, Yuksel-Konuk EB, Bartsch O. Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report. Turk J Pediatr. May-Jun 2008;50(3):265-8. [Medline].

6. Marangi G, Leuzzi V, Orteschi D, et al. Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype. Am J Med Genet A. Sep 15 2008;146A(18):2313-7. [Medline].

7. Galera C, Taupiac E, Fraisse S, et al. Socio-Behavioral Characteristics of Children with Rubinstein-Taybi Syndrome. J Autism Dev Disord. Apr 7 2009;[Medline].

8. Altintas F, Cakmakkaya S. Anesthetic Management of a child with Rubenstein-Taybi syndrome. Paediatr Anaesth. 2004;14(7):610-611. [Medline].

9. Bartsch O, Schmidt S, Richter M, et al. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet. 2005;117(5):485-493. [Medline].

10. Cantani A, Gagliesi D. Rubinstein-Taybi syndrome. Review of 732 cases and analysis of the typical traits. Eur Rev Med Pharmacol Sci. Mar-Apr 1998;2(2):81-7. [Medline].

11. Coupry I, Monnet L, Attia AA, et al. Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR. Hum Mutat. 2004;23(3):278-284. [Medline].

12. [Guideline] Cunniff C. Prenatal screening and diagnosis for pediatricians. Pediatrics. Sep 2004;114(3):889-94. [Medline].

13. Hennekam RC, Lommen EJ, Strengers JL, et al. Rubinstein-Taybi syndrome in a mother and son. Eur J Pediatr. Feb 1989;148(5):439-41. [Medline].

14. Hennekam RC, Stevens CA, Van de Kamp JJ. Etiology and recurrence risk in Rubinstein-Taybi syndrome. Am J Med Genet Suppl. 1990;6:56-64. [Medline].

15. Jones KL. Smith's Recognizable Patterns of Human Malformation. 5^th ed. Philadelphia, PA: WB Saunders; 1996.

16. Jones KL, Jones MC. A Clinical Approach to the Dysmorphic Child in Emery and Rimoin's Principles and Practices of Medical Genetics. 3^rd ed. New York, NY: Churchill; 1996.

17. Marion RW, Garcia DM, Karasik JB. Apparent dominant transmission of the Rubinstein-Taybi syndrome. Am J Med Genet. May 15 1993;46(3):284-7. [Medline].

18. Oike Y, Hata A, Mamiya T, et al. Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism. Hum Mol Genet. Mar 1999;8(3):387-96. [Medline]. [Full Text].

19. Petrij F, Dauwerse HG, Blough RI, et al. Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet. Mar 2000;37(3):168-76. [Medline].

20. Petrij F, Giles RH, Dauwerse HG, et al. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co- activator CBP. Nature. Jul 27 1995;376(6538):348-51. [Medline].

21. Roelfsema JH, White SJ, Ariyurek Y, et al. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005;76(4):572-580. [Medline]. [Full Text].

22. Rubinstein JH. The broad thumb syndrome - progress report 1968. Birth Defects Orig Art Ser. 1969;V(2):25-41.

23. Rubinstein-Taybi Syndrome. OMIM. Available at http://www.ncbi.nlm.nih.gov.

24. Stevens CA, Bhakta MG. Cardiac abnormalities in the Rubinstein-Taybi syndrome. Am J Med Genet. Nov 20 1995;59(3):346-8. [Medline].

25. Stirt JA. Succinylcholine in Rubinstein-Taybi syndrome. Anesth. 1982;57(5):429. [Medline].

26. Wood MA, Kaplan MP, Park A, et al. Transgenic mice expressing a truncated form of CREB-binding protein (CBP) exhibit deficits in hippocampal synaptic plasticity and memory storage. Learn Mem. 2005;12(2):111-119. [Medline]. [Full Text].

27. Yamamoto T, Kurosawa K, Masuno M, et al. Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome. Am J Med Genet. 2005;135(2):130-133. [Medline].

Further Reading

• Related eMedicine topics include the following:
  • Rubinstein-Taybi Syndrome (Dermatology)
  • Mental Retardation
  • Infections in the Immunocompromised Host

Keywords

Rubinstein-Taybi syndrome, RSTS, Rubinstein syndrome, distinctive facies, prominent nose, mental retardation, broad thumbs, broad great toes, OMIM #180849, cyclic adenosine monophosphate, cAMP, cAMP response element binding, CREB, OMIM #600140, OMIM #602700, growth retardation, feeding difficulties, failure to thrive, respiratory infections, congenital heart disease, developmental delay, medulloblastoma, neuroblastoma, meningioma, rhabdomyosarcoma, leukemia, congenital heart disease, ventricular septal defect, VSD, patent ductus arteriosus, PDA, atrial septal defect, ASD, coarctation of the aorta, cryptorchidism, treatment, diagnosis

Contributor Information and Disclosures

Author

David Flannery, MD, FAAP, FACMG, Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia
David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics
Disclosure: Nothing to disclose.

Medical Editor

Elaine H Zackai, MD, Professor of Pediatrics, Professor of Obstetrics and Gynecology, Professor of Pediatrics in Human Genetics, University of Pennsylvania School of Medicine; Director, Clinical Genetics Center, University of Pennsylvania; Senior Physician and Director of Clinical Genetics, The Children's Hospital of Philadelphia
Elaine H Zackai, MD is a member of the following medical societies: American Cleft Palate/Craniofacial Association, American College of Medical Genetics, and American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Robert Anthony Saul, MD, Clinical Professor, Department of Pediatrics, University of South Carolina; Senior Clinical Geneticist, Greenwood Genetic Center
Robert Anthony Saul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, and American College of Physician Executives
Disclosure: Nothing to disclose.

CME Editor

Daniel Rauch, MD, FAAP, Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine
Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine
Disclosure: Baxter Honoraria Consulting

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.