Beckwith-Wiedemann Sendromu: Olgu Sunumu

Year 2021, , 39 - 42, 30.04.2021

Büşra Özoğlu , Erkut Etçioğlu , Deniz Şerife Cebeci

https://doi.org/10.35514/mtd.2021.45

Abstract

Beckwith-Wiedemann Sendromu (BWS) birçok organ anomalilerinin birlikte olduğu nadir görülen konjenital aşırı büyüme sendromlarından biridir. Bu yazımızda, prenatal ultrasonografi görüntülemesinde omfalosel saptanan ve doğum sonrasında yapılan fizik muayenedeki bulgular ile Becwith-Wiedemann sendromu (BWS) tanısı konulan üç aylık erkek olgu sunulmaktadır. BWS tanısı alan olgular; solunum ve beslenme sıkıntısı, yenidoğan hipoglisemisi, malignite gelişimi açısından dikkatle takip edilmelidir ve ailelere genetik danışmanlık verilmelidir.

Keywords

Beckwith-Wiedemann Sendromu, Omfalosel, Makroglossi

Beckwith-Wiedemann Syndrome: A Case Report

Abstract

Beckwith-Wiedemann Syndrome (BWS) is one of the rare congenital overgrowth syndromes with many organ anomalies. In this article, we present a three-month-old male case diagnosed with Becwith-Wiedemann syndrome (BWS) with the findings of postpartum physical examination and omphalocele detected by prenatal ultrasonography. Cases diagnosed with BWS; should be followed carefully in terms of respiratory and nutritional distress, neonatal hypoglycemia and development of malignancy and genetic counseling should be given to families.

Keywords

Beckwith-Wiedemann Syndrome, Omphalocele, Macroglossia

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