BECKWITH WEIDEMANN SYNDROME- A DIAGNOSTIC DILEMMA

Aditya Upadhyayula, Yogi Nagender M, Srinivas Upadhyayula
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Abstract

Beckwith Wiedemann Syndrome (BWS) is a congenital condition characterised by overgrowth of different body parts which is usually manifested at birth. It is a rare condition where there may be hemi hyperplasia, omphalocele or other abdominal wall defects, hypoglycaemia in neonatal period, macroglossia, intra-abdominal visceromegaly, ear skin creases or pits, and renal abnormalities (Wilms tumor). They have high risk to develop tumours; especially Wilms tumour, hepatoblastoma, rhabdomyosarcoma. Degree of clinical manifestations vary from person to person as some may have all features while some may have only one of the many symptoms.
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贝克韦德曼综合征--诊断难题
贝克维斯-韦德曼综合征(BWS)是一种先天性疾病,其特征是身体各部分过度生长,通常在出生时就表现出来。这是一种罕见的疾病,可能会出现半球增生、脐膨出或其他腹壁缺损、新生儿期低血糖、巨舌、腹内粘液性肿大、耳部皮肤皱褶或凹陷以及肾脏异常(威尔姆斯肿瘤)。他们患肿瘤的风险很高,尤其是 Wilms 肿瘤、肝母细胞瘤和横纹肌肉瘤。临床表现的程度因人而异,有些人可能具有所有特征,而有些人可能只具有众多症状中的一种。
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