Case Report

Year : 2015

Volume : Volume 5

Issue : Issue 3s

Fragile X Syndrome: Not So Fragile

Dr. Srikanth Aryasri Ankisetti

Address for correspondence :
Dr. Srikanth Aryasri Ankisetti
srikanth.a@gmail.com

Abstract


Background:  Fragile X Syndrome also known as Martin–Bell syndrome, or Escalante's syndrome, is one of the most common inherited genetic disorders causing mental retardation. This disorder results from an abnormal expansion in (CGG)n repeat found in the coding sequence of the FMRI gene, located at Xq 27.3, especially among boys. It results in a spectrum of intellectual disabilities ranging from mild to severe physical characteristics along with dental manifestations. Here we present a diagnosed case of Fragile X Syndrome with dental manifestations.

Keywords: Fragile X syndrome, genetic disorder, mental retardation.