Williams-Beuren Syndrome: A Case Report

Yıl 2019, Cilt: 22 Sayı: 4, 481 - 485, 29.12.2019

Seren Kaya Kaan Orhan Firdevs Tulga Öz

https://doi.org/10.7126/cumudj.642349

Cited By: 1

Öz

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.

Anahtar Kelimeler

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

Kaynakça

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