PERIOPERATIVE ANESTHETIC MANAGEMENT OF A PATIENT OF RUBINSTEIN TAYBI SYNDROME FOR SQUINT SURGERY
Journal Title: International Journal Of Advances In Surgery - Year 2017, Vol 1, Issue 6
Abstract
INTRODUCTION Rubinstein Taybi syndrome was first described by Rubeinstein and Taybi in 1963. The incidence is estimated to be approximately 1 in 3,00,000 in general population. It occurs due to mutation of chr 16p13.3 an EP300 gene coding [1] for CREBB protein . It is an autosomal dominant disorder chiefly characterized by short stature, moderate to severe mental retardation, broad thumb and first toe and distinctive [2] craniofacial features . It is also associated congenital heart diseases, feeding difficulties, gastroesophageal reflux and other congenital malformations.
Authors and Affiliations
Dr. Prerana Jain, Dr. Upma Bhatia
Keywords
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