Süt Çocukluğu Döneminde Tanı Alan Wıllıams-Beuren Sendromu Vakası: Erken Tanının Önemi

Year 2019, , 301 - 304, 30.09.2019

Fuat Buğrul , Fahrettin Duymuş

https://doi.org/10.16899/jcm.598719

Abstract

Williams-Beuren sendromu (WBS) 7. kromozomun uzun kolunun 11.23 bölgesinin mikrodelesyonu sonucu oluşan 1/ 20.000 sıklığında görülen nadir bir hastalıktır. Karakteristik yüz özelliklerine zihinsel yetersizlik, konjenital kalp anomalileri ve endokrin bozukluklar eşlik edebilir. Tanı klinik ve laboratuvar bulgularıyla şüphelenilen vakalarda floresan in situ hibridizasyon (FISH) yöntemi kullanılarak delesyonun gösterilmesiyle konur. Bu yazıda, WBS tanısı alan 8 aylıkbir vakanın tipik ve atipik bulguları tanımlanmış ve erken tanının öneminin vurgulanması amaçlanmıştır.

Keywords

Williams-Beuren sendromu, süt çocuğu, konjenital kalp hastalığı

The case of williams-beuren syndrome diagnosed in infancy : the importance of early diagnosis

Abstract

Abstract:

Williams-Beuren syndrome (WBS) is a rare
disease with a frequency of 1/20000 caused by 
the microdeletion of 11.23 regions of the long arm of chromosome 7. The
characteristic facial features of WBS may be accompanied by the  mental deficiency, congenital heart
abnormalities and endocrine disorders. The diagnosis is made by demonstrating
the deletion using fluorescence in situ hybridization (FISH) in the cases
suspected by the clinical and the laboratory findings.  The typical and atypical findings of an
8-month-old patient diagnosed with WBS is described  in this article and our aim is to emphasize
the importance of early diagnosis of WBS .

Keywords

Williams-Beuren syndrome, microdeletion syndromes, Congenital heart diseases, infancy

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