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 SyndromePrognosisBeckwith-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...
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...
摘要: Beckwith-Wiedemann syndrome (BWS) (OMIM 130650) is a disease of prenatal overgrowth, congenital malformations, and predisposition to cancer. The syndrome was independently described by J.B. Beckwith关键词: Humans Chromosomes, Human, Pair 11 Insulin-Like Growth Factor II Diagnosis, Differential...
Beckwith-Wiedemann syndrome is the most common congenital syndrome associated with overgrowth and childhood cancer predisposition. This genetic imprinting disorder has various clinical manifestations. Early recognition of the condition is critical for monitoring and treating complications. ...
There are no clear cancer screening guidelines, but at least initial evaluation and screening, like the Beckwith-Wiedemann syndrome protocol (also due to genes localized at 11p15.5), is indicated. The Costello Syndrome Support Group is found at www.costellokids.com. Show moreView chapterExplore ...
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, ...
目的探讨新生儿Beckwith-Wiedemann综合征(Beckwith-Wiedemann syndrome,BWS)的临床表现和分子诊断经验。 方法回顾性分析复旦大学附属儿科医院新生儿科2016年1月至2020年12月收治的新生儿期诊断BWS患儿的临床资料,包括临床特征、分子诊断和是否合并其他先天疾病等。 结果共纳入16例BWS新生儿,男9例,女7例,胎龄34~39周,出生...
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6例胎儿产前均有宫内过度生长,超声测值均大于同龄胎儿。产前超声特征...
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...