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, an American pathologist, at the annual meeting of the Western Society for Pediatric Research in 1963...
Beckwith-Wiedemann syndrome的数据库代码 根据《人的基因序列变化与人体疾病表征》,Beckwith-Wiedemann综合征的数据库编码是omim_id:130650 ;hpo_id:HP:0000028 ;genereviews_link:https://www.ncbi.nlm.nih.gov/books/n/gene/bws/;ICD编码是Q87.3 做Beckwith-Wiedemann综合征基因解码、基因检测需要多长时间? 不管佳...
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 • 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, ...
Summary Beckwith–Wiedemann syndrome (BWS, OMIM 130650) is characterized by macrosomia, macroglossia, visceromegaly, hemihypertrophy, abdominal wall defects, ear creases/pits, neonatal hypoglycemia, polyhydramnios, placentomegaly, placental mesenchymal dysplasia, cardiac defects, nevus flammeus, hemangioma...
Beckwith-Wiedemann syndrome (BWS, OMIM #130,650) is a pediatric overgrowth disorder involving a predisposition to tumor development. Although the clinical management of affected patients is well established, it is less clear how to handle with the cases of siblings of affected patients, since the ...
The locus of KCNQ1 falls within a region of chromosome 11p subjected to imprinting and also involved in another genetic condi- tion, the Beckwith-Wiedemann syndrome (BWS).5 The molecular bases of BWS are complex, and involve the altered expression of multiple growth regulatory genes in the 11p...
A subclass of individuals with Beckwith-Wiedemann syndrome (BWS; OMIM 130650) show hypermethylation and silencing of the maternal H19 allele and activation of both parental IGF2 alleles1,2. Upregulation of IGF2 is important for the somatic overgrowth and tumor predis- position of BWS; the role...
We experienced three typical cases of Beckwith-Wiedemann sundrome (EMG syndrome) . In common to three cases, omphalocele was antenatally found. At birth, the large statue for gastational age, the macroglossia and hypoglycemia were recognized. Type of omphalocele was a hernia into the umbilical ...
Hermann-Josef Lüdecke1, Julia Kolarova4, Reiner Siebert4, Zeljko Mikovic2, Bernhard Horsthemke1 and Karin Buiting*,1 Beckwith–Wiedemann syndrome (BWS; OMIM #130650) is an overgrowth syndrome caused by different genetic or epigenetic alterations affecting imprinted regions on chromosome 11p15.5. ...