Results 1 to 10 of about 6,481 (205)
Bilateral Adrenal Mass Secondary to Bilateral Infantile Neuroblastoma in an Infant With Beckwith‐Wiedemann Syndrome [PDF]
Clinical Case ReportsInfants with Beckwith‐Wiedemann syndrome face a high risk of embryonal tumors, necessitating early and consistent surveillance. This case illustrates how timely imaging and biochemical monitoring enabled successful non‐surgical management of bilateral ...
Mulualeme Nigusie +6 more
doaj +4 more sources
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2010 AbstractBeckwith–Wiedemann syndrome (BWS) is an imprinting disorder characterized by overgrowth, tumor predisposition, and congenital malformations. Approximately 85% of reported BWS cases are sporadic, while the remaining 15% are familial. BWS is caused by epigenetic or genomic alterations which disrupt genes in one or both of the two imprinted ...
Sanaa Choufani +2 more
exaly +5 more sources
Beckwith–Wiedemann syndrome [PDF]
European Journal of Human Genetics, 2009 Beckwith-Wiedemann syndrome (BWS) is a model disorder for the study of imprinting, growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an important embryonic developmental window relevant to the observations of increased monozygotic twinning and an increased rate of epigenetic errors after subfertility/assisted ...
Rosanna Weksberg +2 more
openalex +3 more sources
Beckwith-Wiedemann syndrome. [PDF]
Pan Afr Med J, 2023 A female infant aged 2-years, weighed 15 kg was brought to the outpatient department (OPD) with the chief complaint of difficulty in speech. She had a normal vaginal delivery at full term, weighing 3 kg, with no noteworthy family history. The infant had a device closure procedure after being diagnosed with patent-ductus-arteriosus at birth.
Mishra D, Chakole V.
europepmc +4 more sources
Revista Cubana de Anestesiología y Reanimación, 2019 Beckwith-Wiedemann syndrome is characterized by omphalocele, macroglossia, visceromegaly and neonatal hypoglycaemia, as well as a great diversity of clinical and laboratory abnormalities.
Niurys Aguilar Ramírez +3 more
doaj +7 more sources
Macroglossia and Beckwith-Wiedemann syndrome [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2011 Introduction. In 1963 Beckwith presented a report on the first patient with extreme cytomegaly of adrenal cortex, hyperplasia of kidneys and pancreas and Leydig cell hyperplasia.
Krasić Dragan +5 more
doaj +3 more sources
Clinics, 2009 BACKGROUND: Beckwith-Wiedemann syndrome is a disorder of somatic overgrowth. Evidence of kidney overgrowth is a diagnostic criterion that may be used to help identify those patients who are at the greatest risk of developing Wilms tumors.
Clara L Ortiz-Neira +6 more
doaj +3 more sources
Upper Extremity Manifestations of Beckwith–Wiedemann Syndrome: A Unique Case Presentation and Management of a Pediatric Patient Over 9 Years [PDF]
Journal of Hand Surgery Global OnlineBeckwith–Wiedemann syndrome is a rare congenital genetic condition with various clinical manifestations, notably isolated lateralized overgrowth. Literature regarding hemihyperplasia of the hand and upper extremity is scarce.
Vidhur Sohini, MD +3 more
doaj +2 more sources
Case Report: Beckwith–Wiedemann syndrome with reduced H19 expression [PDF]
Frontiers in PediatricsBackgroundBeckwith–Wiedemann syndrome (BWS) is a congenital imprinting disorder characterized by macrosomia, umbilical hernia, macroglossia, and increased tumor susceptibility. DNA methylation changes at 11p15.5 are its primary molecular mechanisms. This
Meng Wang +3 more
doaj +2 more sources
(Epi)genotype-phenotype correlations of Beckwith-Wiedemann syndrome in China. [PDF]
Ital J PediatrLan D, Zhang S, Li J, Wang Y, Dong C.
europepmc +3 more sources