Williams-Beuren Syndrome: A Case Report

Seren Kaya; Kaan Orhan; Firdevs Tulga Öz

doi:10.7126/cumudj.642349

EN

Williams-Beuren Syndrome: A Case Report

Abstract

Williams syndrome is a rare neurodevelopmental disorder caused by the spontaneous deletion of genetic material from the region q11.23 of one member of the pair of chromosome 7, so that the person is hemizygous for those genes. Syndrome is a rarely genetic multisystem disorder that occurs equally in all ethnic groups and both sexes. Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. The diagnosis of this syndrome is based on recognition of the characteristic pattern of dysmorphic facial and physical features. The diagnosis is typically suspected based on symptoms and confirmed by genetic testing. Treatment includes special education programs and various types of therapy. Surgery may be done to correct heart problems. Dietary changes or medications may be required for high blood calcium. Life expectancy is less than that of the general population, mostly due to the increased rates of heart disease. This case report presents the story of 10-year-old girl who suffers from Williams syndrome. Cardiac murmur, mental retardation, severe malocclusion problems, wide mouth, diestama, full lip, periorbital fulness, epicanthal fold, stellate iris pattern, short stature, weaknesses in retional/conceptual language and short term memory observed in this patient. In this study, patient’s salivary glands and deciduous anterior tooth were investigated by detailed diagnostic methods (USG, micro-CT). The overall purpose of this case was to diagnose dental manifestations and evaluate physical and clinical characteristics of present case with Williams Syndrome.

Keywords

Williams Syndrome,salivary glands,tooth,deciduous,heart diseases

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