International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
Call for Papers | Open Access | Double Blind Peer Reviewed

ISSN: 2319-7064




Downloads: 1 | Views: 11 | Weekly Hits: ⮙1 | Monthly Hits: ⮙1

Case Studies | Psychiatry | India | Volume 11 Issue 12, December 2022


Severe Intellectual Disability in a Case with Rubinstein-Taybi Syndrome: A Case Report

Dr. Durganjali .B


Abstract: The chromosomal segment 16p13.3 microdeletion syndrome known as Rubinstein-Taybi syndrome (RSTS) is characterised by CREBBP gene mutations, a delay in the development of height and weight, distinctive facial features, broad and occasionally angulated thumbs and halluces, short stature, and mild to severe intellectual impairment. The present case report is of a female who came for disability certification and was incidentally identified with Rubinstein-Taybi syndrome.


Keywords: Intellectual disability, Rubinstein - Taybi Syndrome, microcephaly, clinodactyly , genetic counselling


Edition: Volume 11 Issue 12, December 2022,


Pages: 846 - 847


How to Download this Article?

Type Your Email Address below to Download the Article PDF


How to Cite this Article?

Dr. Durganjali .B, "Severe Intellectual Disability in a Case with Rubinstein-Taybi Syndrome: A Case Report", International Journal of Science and Research (IJSR), Volume 11 Issue 12, December 2022, pp. 846-847, https://www.ijsr.net/get_abstract.php?paper_id=SR221214000835



Similar Articles with Keyword 'Intellectual disability'

Downloads: 1 | Weekly Hits: ⮙1 | Monthly Hits: ⮙1

Case Studies, Psychiatry, India, Volume 11 Issue 12, December 2022

Pages: 1142 - 1143

A Typical Case of Jeavons Syndrome with Intellectual Disability

Dr. Sushmitha Anantha Murthy

Share this Article

Downloads: 1 | Weekly Hits: ⮙1 | Monthly Hits: ⮙1

Research Paper, Psychiatry, India, Volume 12 Issue 3, March 2023

Pages: 408 - 410

Correlation between Anaemia and Perceived Stress in Antenatal Women Attending Antenatal Clinics

Dr. Renu Mounika .T | Dr. E. Ananda Reddy

Share this Article



Top