Volume : IX, Issue : II, February - 2020

A CLASSICAL CASE OF RUBINSTEIN TAYBI SYNDROME

Dr. Shachi Bhanuda, Dr. Ravanagomagan, Dr. Jagadeeswari, Dr. Sundari S

Abstract :

Rubinstein–Taybi syndrome (RSTS) is a rare congenital disorder, mainly characterized by postnatal growth retardation, intellectual disability, and facial and limb abnormalities. The syndrome is caused by a mutation in the CREBBP or EP300 gene, or as a result of micro–deletion of genetic material from the short (p) arm of chromosome 16. In some people with RTS, the cause is unknown. While RTS is autosomal dominant, most of the cases result from de novo mutation and are not inherited from a parent. Management generally involves screening, growth and developmental monitoring, annual ophthalmologic and heå evaluations, and evaluation for cardiac, dental and renal anomalies. An echocardiogram should be performed to evaluate for congenital heart disease. Behavioral therapy and special education are also indicated.

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Article: Download PDF    DOI : 10.36106/ijsr  

Cite This Article:

A CLASSICAL CASE OF RUBINSTEIN- TAYBI SYNDROME, Dr. Shachi Bhanuda, Dr. Ravanagomagan, Dr. Jagadeeswari, Dr. Sundari S INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH : Volume-9 | Issue-2 | February-2020

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