Craniofacial and Oral Features of Williams Syndrome- A Rare Case Report

Abstract

Williams syndrome is a rare genetic disorder that occurs due to deletion on chromosome 7q11.23. The prevalence is said to be 1:7500-1:20,000. The typical presentation of the syndrome includes dysmorphic facial features, cardiovascular malformations and intellectual disability. Craniofacial features of these children include short anterior cranial base, protrusive maxilla, increased Mandibular Plane- Occlusal angle, steep mandibular plane and reduced ratio of posterior to anterior facial height. The unique characteristics of these children are over friendliness, out-going personality, hyper-acusis and tendency to get easily distracted. This is a unique case of Williams syndrome in an eight-year-old female patient.

Keywords

• cardiovascular abnormalities
• elfin facies
• intellectual disability