Open AccessCraniofacial and Oral Features of Williams Syndrome- A Rare Case Report
Author(s) -
G Geethanjali,
Amarshree A Shetty,
Amitha M Hegde
Publication year - 2020
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2020/44283.13870
Subject(s) - craniofacial , williams syndrome , craniofacial abnormality , maxilla , medicine , presentation (obstetrics) , orthodontics , anatomy , surgery , psychiatry , cognition
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.