Beckwith-Wiedemann syndrome. [PDF]
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
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]
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
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
Bilateral Adrenal Mass Secondary to Bilateral Infantile Neuroblastoma in an Infant With Beckwith‐Wiedemann Syndrome [PDF]
Infants 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 +2 more sources
Upper Extremity Manifestations of Beckwith–Wiedemann Syndrome: A Unique Case Presentation and Management of a Pediatric Patient Over 9 Years [PDF]
Beckwith–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
Diagnosis and Management of Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that presents with a wide spectrum of clinical features including overgrowth, abdominal wall defects, macroglossia, neonatal hypoglycemia, and predisposition to embryonal tumors. It
Kathleen H. Wang +5 more
doaj +3 more sources
Clinical and Molecular Characteristics of Children with Beckwith-Wiedemann Syndrome and Isolated Hemihyperplasia at Sultan Qaboos University Hospital with their Surveillance Outcomes [PDF]
Objectives: Beckwith-Wiedemann syndrome (BWS) is a rare genetic and cancer-predisposing disorder characterized by variable clinical and molecular abnormalities.
Ayat Sulayiam Al-Hinai +5 more
doaj +2 more sources
Case Report: Beckwith–Wiedemann syndrome with reduced H19 expression [PDF]
BackgroundBeckwith–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
Joint effects of CD8A and ICOS in Long QT Syndrome (LQTS) and Beckwith-Wiedemann Syndrome (BWS) [PDF]
Background Long QT Syndrome (LQTS) and Beckwith-Wiedemann Syndrome (BWS) are complex disorders with unclear origins, underscoring the need for in-depth molecular investigations into their mechanisms.
Ling-bing Meng +5 more
doaj +2 more sources

