Rubinstein–Taybi syndrome: a case report

Authors

  • Saylee S. Jagtap Department of Pediatrics, Dr. D.Y. Patil Hospital and Medical College, Nerul, Navi-Mumbai, Maharashtra, India http://orcid.org/0000-0001-5758-4199
  • Prithi Inamdar Department of Pediatrics, Dr. D.Y. Patil Hospital and Medical College, Nerul, Navi-Mumbai, Maharashtra, India
  • Rajdeep Pal Department of Pediatrics, Dr. D.Y. Patil Hospital and Medical College, Nerul, Navi-Mumbai, Maharashtra, India
  • Rajesh K. Rai Department of Pediatrics, Dr. D.Y. Patil Hospital and Medical College, Nerul, Navi-Mumbai, Maharashtra, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20222630

Keywords:

Rubinstein Taybi syndrome, Genetic condition, CREBBP gene, EP300 gene

Abstract

Rubinstein Taybi syndrome (RTS) is a rare genetic condition caused by a mutation or deletion in the CREBBP and/or EP300 gene located on chromosome 16. It is characterized by short stature, moderate to severe learning difficulties, distinctive facial features and broad thumbs and toes. It occurs in estimated 1 in 1,25000 to 3,00000 births. Diagnosis mainly depends upon the presence of distinctive features, abnormal facies, abnormalities of limbs. These patients are also at increased risk of developing meningioma, other brain tumours and leukaemia, thus early diagnosis and recognition of malignancy can aid in successful life-saving interventions.

References

López M, Seidel V, Santibáñez P, Cervera-Acedo C, Castro-de Castro P, Domínguez-Garrido E. First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. BMC Med Genet. 2016;17(1):97.

Rubenstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Children. 1963;105:588-608.

Kim SH, Lim BC, Chae JH, Kim KJ, Hwang YS. A case of Rubinstein-Taybi syndrome with a CREB-binding protein gene mutation. Korean J Pediatrics. 2010;53(6):718-21.

Hennekam RC. Bibliography on Rubinstein-Taybi syndrome. Am J Med Genet. 1990;6:77-83.

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Published

2022-10-27

Issue

Section

Case Reports