eMedicine Specialties > Dermatology > Pediatric Diseases

Rubinstein-Taybi Syndrome: Follow-up

Author: Zeljko P Mijuskovic, MD, Dermatovenereologist, Department of Dermatology and Venereology, Military Medical Academy, Serbia
Coauthor(s): Djordjije Karadaglic, MD, DSc, Professor, School of Medicine, University of Podgorica, Podgorica, Montenegro; Ljubomir Stojanov, MD, PhD, Professor, University of Belgrade School of Medicine, Serbia
Contributor Information and Disclosures

Updated: Feb 5, 2009

Follow-up

Further Outpatient Care

  • Physical therapy, speech and feeding therapy, and special education are important supportive therapies in infancy.

Complications

  • Cardiac arrhythmias can result if succinylcholine is administered.
  • Sleeping problems include insomnia; glossoptosis can cause sleep apnea.
  • Laryngeal wall collapsibility may cause sleeping problems and difficulty during anesthesia.

Prognosis

  • Genetically based growth retardation and feeding difficulties are the principal problems hindering the development of children.
  • Respiratory tract infections and complications resulting from congenital heart disease are primary causes of morbidity and mortality in infancy.
  • Milestones in patients with Rubinstein-Taybi syndrome are delayed.

Patient Education

  • The Web site Rubinstein-Taybi Syndrome is devoted to people with Rubinstein-Taybi syndrome and their families. Photographs of children and adults with Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome organizations around the world, and lists of books and other resources for families are available.

Miscellaneous

Medicolegal Pitfalls

  • Failure to pay special attention to the possibilities of airway obstruction, aspiration pneumonia, and cardiovascular dysfunction when the patient is under anesthesia (especially cardiac arrhythmias with succinylcholine use) is a pitfall.
 
Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous Chief Editor, William D. James, MD, to the development and writing of this article.



More on Rubinstein-Taybi Syndrome

Overview: Rubinstein-Taybi Syndrome
Differential Diagnoses & Workup: Rubinstein-Taybi Syndrome
Treatment & Medication: Rubinstein-Taybi Syndrome
Follow-up: Rubinstein-Taybi Syndrome
Multimedia: Rubinstein-Taybi Syndrome
References

References

  1. 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].

  2. 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].

  3. Wood VE, Rubinstein J. Duplicated longitudinal bracketed epiphysis "kissing delta phalanx" in Rubinstein-Taybi syndrome. J Pediatr Orthop. Sep-Oct 1999;19(5):603-6. [Medline].

  4. van Genderen MM, Kinds GF, Riemslag FC, Hennekam RC. Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature. Br J Ophthalmol. Oct 2000;84(10):1177-84. [Medline].

  5. Schorry EK, Keddache M, Lanphear N, et al. Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am J Med Genet A. Oct 1 2008;146A(19):2512-9. [Medline].

  6. Sener RN. Bilateral extra tarsal bones in Rubinstein-Taybi syndrome: the fourth cuneiform bones. Eur Radiol. 1999;9(3):483-4. [Medline].

  7. Siraganian PA, Rubinstein JH, Miller RW. Keloids and neoplasms in the Rubinstein-Taybi syndrome. Med Pediatr Oncol. 1989;17(6):485-91. [Medline].

  8. Bayle P, Bazex J, Lamant L, Lauque D, Durieu C, Albes B. Multiple perforating and non perforating pilomatricomas in a patient with Churg-Strauss syndrome and Rubinstein-Taybi syndrome. J Eur Acad Dermatol Venereol. Sep 2004;18(5):607-10. [Medline].

  9. Gomez Centeno P, Roson E, Peteiro C, Mercedes Pereiro M, Toribio J. Rubinstein--Taybi syndrome and ulerythema ophryogenes in a 9-year-old boy. Pediatr Dermatol. Mar-Apr 1999;16(2):134-6. [Medline].

  10. Nakai K, Yoneda K, Moriue T, Kubota Y. Striate palmoplantar keratoderma in a patient with Rubinstein-Taybi syndrome. J Eur Acad Dermatol Venereol. Jul 9 2008;[Medline].

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

  12. Verstegen MJ, van den Munckhof P, Troost D, Bouma GJ. Multiple meningiomas in a patient with Rubinstein-Taybi syndrome. Case report. J Neurosurg. Jan 2005;102(1):167-8. [Medline].

  13. Blough RI, Petrij F, Dauwerse JG, et al. Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome. Am J Med Genet. Jan 3 2000;90(1):29-34. [Medline].

  14. Roelfsema JH, White SJ, Ariyürek Y, et al. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. Apr 2005;76(4):572-80. [Medline].

  15. Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet A. Jun 1 2003;119A(2):101-10. [Medline].

Further Reading

Keywords

Rubinstein-Taybi syndrome, RSTS, broad thumb-hallux syndrome, mental retardation, broad big toes, prominent nose, growth retardation, feeding difficulties, congenital heart disease, developmental abnormalities

Contributor Information and Disclosures

Author

Zeljko P Mijuskovic, MD, Dermatovenereologist, Department of Dermatology and Venereology, Military Medical Academy, Serbia
Zeljko P Mijuskovic, MD is a member of the following medical societies: European Academy of Dermatology and Venereology, European Society for Dermatological Research, International Society of Dermatology, and Serbian Association of DermatoVenereologists
Disclosure: Nothing to disclose.

Coauthor(s)

Djordjije Karadaglic, MD, DSc, Professor, School of Medicine, University of Podgorica, Podgorica, Montenegro
Djordjije Karadaglic, MD, DSc is a member of the following medical societies: American Academy of Dermatology, European Academy of Dermatology and Venereology, and Serbian Association of DermatoVenereologists
Disclosure: Nothing to disclose.

Ljubomir Stojanov, MD, PhD, Professor, University of Belgrade School of Medicine, Serbia
Disclosure: Nothing to disclose.

Medical Editor

Mark A Crowe, MD, Assistant Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine
Mark A Crowe, MD is a member of the following medical societies: American Academy of Dermatology and North American Clinical Dermatologic Society
Disclosure: Nothing to disclose.

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Managing Editor

Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

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