A rare presentation of Rubinstein-Taybi syndrome

Abstract

Objective. Taybi syndrome is a rare genetical disorder with the symptoms of small stature, broad thumbs and first toes, a moderate to severe intellectual handicap, and unique facial traits. The present case study aimed with diagnose and therapeutic management of pediatric patients having Rubinstein-Taybi syndrome. Study area. The case study was carried out in Jawaharlal Nehru Medical College, Acharya Vinoba Bhave Rural Hospital, Sawangi Meghe, Wardha, Maharashtra, in department of Pediatrics. The present study follows case of male child, diagnosed with different degrees of compliance, in which the therapeutic approach was determined by the severity of the patient’s conditions. Outcomes. Case study on 3 years old male child was carried out and observed with some behavioral changes like unstable mood, distractibility and impulsivity along with attention problem, aggressive nature and self-injurious behavior etc. As the syndrome does not have a particular treatment but some therapies are applied to address issues that are frequently connected to the illness. The thumbs or toes surgically repaired might enhance grip or ease pain. The study was performed as per the scientific way, based on research literatures study.

Keywords

• rubinstein-taybi syndrome
• polydactyly
• intellectual disability
• broad thumb hallux syndrome
• dysmorphic facies