Downloads: 1 | Views: 95 | Weekly Hits: ⮙1 | Monthly Hits: ⮙1
Case Studies | Psychiatry | India | Volume 11 Issue 12, December 2022 | Rating: 4.3 / 10
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