贝克-维德曼综合征(Beckwith-Wiedemann syndrome,BWS)是一种以新生儿低血糖、巨大儿、大舌癌、偏侧发育过度、脐膨出、胚胎肿瘤(如肾母细胞瘤、肝母细胞瘤、神经母细胞瘤和横纹肌肉瘤)、内脏肿大、肾上腺皮质细胞瘤、肾脏异常(如髓质发育不良、肾髓质增...
Beckwith-Wiedemann syndrome (BWS) is one of the most common overgrowth syndromes. Cancer predisposition is an important feature of this clinically heterogeneous syndrome. Patients may have fetal and early childhood overgrowth, hemihyperplasia, macroglossia, facial dysmorphic features, abdominal wall defects...
伯韦综合征(Beckwith-WiedemannSyndrome,BWS)是与位于11号染色体短臂15区域印记基因簇表达异常相关的一种罕见疾病,具有先天性过度生长及有癌症倾向,发病率约为1/13700,男女发病率相同。以过度生长、巨舌、巨大儿和腹壁缺损(脐膨出/脐疝)为...
The meaning of BECKWITH-WIEDEMANN SYNDROME is an inherited disease that is present at birth and is characterized especially by abdominal wall defects (such as umbilical hernia), increased birth weight, enlarged tongue, hypoglycemia, tumors (such as Wilms
Beckwith-Wiedemann syndrome (or exomphalos, macroglossia, gigantism syndrome) was initially described by Wiedemann in 1964 and Beckwith in 1969. Several hundred cases have been reported of this overgrowth condition with extremely variable clinical presentation. Major findings in infants include macrosomia,...
Beckwith-Wiedemann syndrome (BWS) refers to an overgrowth condition characterized by a larger than normal physical build during childhood. For some affected individuals, the body parts on one side are larger which causes an uneven appearance. The growth typically slows down by age 8 and the ...
Beckwith–Wiedemann syndrome • This syndrome consists of hyperplastic fetal visceromegaly involving the kidney, adrenal cortex, pancreas, gonads, and liver, hemihypertrophy, macroglossia, abdominal wall defects (omphalocele, umbilical hernia, and diastasis recti), ear pits or creases, microcephaly, ...
Beckwith-Wiedemann Syndrome Chromosome 11; EMG syndrome (alias); Cancer Prone Diseases Section; CDKN1C protein, human; H19 RNA; IGF2 protein, human; KCNQ1OT1 protein, human; ZNF215 pr... WWK Lam,ER Maher - 《Current Paediatrics》 被引量: 3发表: 1998年 Defining an optimal time window...
Beckwith-Wiedemann Syndrome 来自 Elsevier 喜欢 0 阅读量: 46 作者:WWK Lam,ER Maher 摘要: Chromosome 11; EMG syndrome (alias); Cancer Prone Diseases Section; CDKN1C protein, human; H19 RNA; IGF2 protein, human; KCNQ1OT1 protein, human; ZNF215 protein, human; Adrenal Cortex Neoplasms; ...
目的总结Beckwith-Wiedemann综合征(Beckwith-Wiedemann syndrome,BWS)的产前超声特征。 方法回顾性分析2015年1月至2022年12月在重庆医科大学附属妇女儿童医院诊断的6例BWS病例的产前超声特征、出生或引产后情况及基因检测结果。采用描述性统计分析。 结果...