Cohen MM Jr. Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 2005 May-Jun:8(3):287-304[PubMed PMID: 16010495] Level ...
Beckwith-Wiedemann Syndrome (BWS)omphaloceleabdominal wall defectsneonatal intussusceptionWe present the extremely rare case of a male newborn with Beckwith-Wiedemann Syndrome (BWS) presenting as delayed abdominal wall closure and neonatal intussusception. Fetal ultrasound had shown omphalocele that resolved ...
Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder, typically presenting in early childhood and caused by deregulation of imprinted genes. The clinical presentation is now recognized to be highly variable, but when originally and independently described in the 1960s by Drs. Beckwith and Wied...
The baby with Beckwith Wiedemann Syndrome (BWS) usualy presents with exomphalos, macroglossia and gigantism. In addition, some children with BWS have other findings including: nevus flammeus, prominent occiput, midface hypoplasia, hemihypertrophy, genitourinary anomalies (enlarged kidneys), cardiac ano...
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...
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...
Introduction: Beckwith–Wiedemann syndrome (BWS) is a pediatric overgrowth disorder presents with classical features of exomphalos, macroglossia, and gigantism. Estimated incidence rate of Beckwith wiedemann syndrome is 1 in 13,700 in population. The incidence of BWS is equal in males and females.Pr...
9 Niemitz EL, DeBaun MR, Fallon J et al: Microdeletion of LIT1 in familial Beckwith–Wiedemann syndrome. Am J Hum Genet 2004; 75: 844–849. 10 Algar E, Dagar V, Sebaj M, Pachter N: An 11p15 imprinting centre region 2 deletion in a family with Beckwith–Wiedemann syndrome provides...
Weksberg R, Shuman C, Smith AC. Beckwith-Wiedemann syndrome. Am J Med Genet 2005; in press Author information Authors and Affiliations Department of Pediatrics, Dalhousie Univesity, 5981 University Avenue, Room 5122, Halifax, Nova Scotia, B3H 3J5, Canada ...
Beckwith-Wiedemann syndromecardiomyopathygiant cellCardiac involvement in Beckwith-Wiedemann syndrome is mostly limited to mild cardiomegaly. Although these patients have visceromegaly, macroglossia, gigantism, and adrenal cytomegaly, no significant myocardial changes have been described. An infant with ...