TY  - JOUR
T1  - Kabızlık ve Üfürümle Tespit Edilen Williams-Beuren Sendromu
TT  - Williams-Beuren Syndrome Detected with Constipation and Murmur
AU  - Büyükbayram, Merve
AU  - Eris, Deniz
AU  - Karakaya, Taner
PY  - 2021
DA  - August
DO  - 10.51261/yiu.2021.00031
JF  - Yüksek İhtisas Üniversitesi Sağlık Bilimleri Dergisi
JO  - YIU Saglik Bil Derg
PB  - Yüksek İhtisas Üniversitesi
WT  - DergiPark
SN  - 2717-8439
SP  - 60
EP  - 62
VL  - 2
IS  - 2
LA  - tr
AB  - Williams-Beuren sendromu  WBS  7. kromozomun uzun kolunun  11.23 bölgesinin mikrodelesyonu sonucu oluşan, 1/20,000-30,000  sıklığında görülen nadir bir hastalıktır. Tipik yüz görünümü,  mental retardasyon, çeşitli konjenital kalp-damar anomalileri ve  endokrinolojik bozukluklar bu sendroma eşlik edebilmektedir. Klinik  ve laboratuvar bulguları sonucu şüphelenilen vakalarda tanı floresan  in situ hibridizasyon  FISH  yöntemi kullanılarak bahsedilen bölgenin  delesyonunun gösterilmesiyle konur. Biz kronik kabızlık yakınmasıyla  tarafımıza başvuran ve eşlik eden klinik bulgularla birlikte yapılan  ekokardiyografide periferik pulmoner stenoz saptanan 17 aylık erkek  hastada WBS tespit ettik, çok yönlü değerlendirme ve erken tanının  öneminin vurgulanmasını amaçladık.
KW  - Konjenital kalp hastalığı
KW  - pulmoner stenoz
KW  - mikrodelesyon sendromları
KW  - kabızlık
KW  - Williams- Beuren sendromu
N2  - Williams-Beuren syndrome  WBS  is a rare disease that occurs as  a result of microdeletion of 11.23 of the long arm of chromosome  7, with a frequency of 1/20.000-30.000. Typical facial appearance,  mental retardation, various congenital cardiovascular anomalies and  endocrinological disorders may accompany this syndrome. In cases  suspected as a result of clinical and laboratory findings, the diagnosis  is made by showing the deletion of the mentioned region using the  fluorescent in situ hybridization  FISH  method. We detected WBS in  a 17-month-old male patient who presented with chronic constipation  and had peripheral pulmonary stenosis in echocardiography performed  with accompanying clinical findings, and aimed to emphasize the  importance of multidimensional evaluation and early diagnosis.
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UR  - https://doi.org/10.51261/yiu.2021.00031
L1  - https://dergipark.org.tr/en/download/article-file/3782983
ER  -