Beckwith-Wiedemann综合征(Beckwith-Wiedemann Syndrome, BWS) ,是一种罕见遗传性疾病,主要影响生长和发育。特征包括过度生长、巨大婴儿综合征、腹壁缺陷、内脏器官肥大、半侧过度生长、耳部皱纹或窝、低血糖以及肿瘤风险增加。患者之间的严重程度和表现可以有所不...
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 a growth disorder characterized by macrosomia, macroglossia, visceromegaly, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), omphalocele, neonatal hypoglycemia, ear creases/pits, adrenocortical cytomegaly, and renal ...
Beckwith-Wiedemann syndrome (BWS) is a growth disorder characterized by macrosomia, macroglossia, visceromegaly, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), omphalocele, neonatal hypoglycemia, ear creases/pits, adrenocortical cytomegaly, and renal abnormalities...
发生在一个家系中的Wiedemann-Beckwith综合征和囱门持续不闭 Wiedemann-Beckwith综合征(脐疝—巨舌—巨大发育,简称E.M.G)患者可出现脐疝,巨舌以及巨大发育症状.在已报告的病例中17%合并耳垂裂缝样缺损,内脏巨型增生,偏侧肥大症,1... 林葆伟 - 《国际遗传学杂志》 被引量: 0发表: 1979年 Beckwith-Wiedemann综合...
The majority of neuroblastomas are sporadic; however they may be associated with Beckwith–Wiedemann syndrome, congenital hypoventilation syndrome, DiGeorge syndrome, Hirschsprung disease, and neurofibromatosis type 1 (Hayflick et al., 1990; Bolande, 1997; Rohrer et al., 2002). The clinical ...
The different molecular causes of Beckwith-Wiedemann syndrome (BWS) have varying tumor and health risks. Due to the stratification of risk, it is important for patients with BWS to be tested for genetic and epigenetic alterations on chromosome 11 to appropriately assess health concerns. BWS is a...
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综合征(BWS)是一种生长障碍,BWS与BWS关键区印迹基因的异常表达有关,被认为是一种临床谱,其中受影响的个体可能具有许多或只有1~2个典型的临床特征。出生后新生儿查体尤为重要,有利于该疾病的早诊早治。本文报道了1例以舌大为首发症状的新生儿,住院期间出现低血糖,后期随访有脐疝,基因检测结果提示...
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. ...