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

Autor: G Geethanjali, Amarshree A Shetty, Amitha M Hegde
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: Journal of Clinical and Diagnostic Research, Vol 14, Iss 7, Pp 05-07 (2020)
Druh dokumentu: article
ISSN: 2249-782X
0973-709X
DOI: 10.7860/JCDR/2020/44283.13870
Popis: 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.
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