Results 1 to 10 of about 4,828 (116)

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   +5 more sources

Beckwith-Wiedemann syndrome

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, Carlos Alberto Fernández Marrero, Carlos de la Paz Estrada, Ana Elena Rabí Lang   +3 more
doaj   +8 more sources

Bilateral Adrenal Mass Secondary to Bilateral Infantile Neuroblastoma in an Infant With Beckwith‐Wiedemann Syndrome [PDF]

Clinical Case Reports
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, Gashaw Arega, Abel Hailu, Abreham Kassahun, Getasew Fikad, Tigest Chalachew, Bargude Balta   +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]

Journal of Hand Surgery Global Online
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, Nancy Jimenez, MD, Savannah Yeh, MD, Jonathan R. Sorelle, MD   +3 more
doaj   +2 more sources

Case Report: Beckwith–Wiedemann syndrome with reduced H19 expression [PDF]

Frontiers in Pediatrics
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, Jiegang Deng, Shuhua Xing, Xuening Niu   +3 more
doaj   +2 more sources

Joint effects of CD8A and ICOS in Long QT Syndrome (LQTS) and Beckwith-Wiedemann Syndrome (BWS) [PDF]

Journal of Cardiothoracic Surgery
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, Yongchao Li, Tingting Lv, Changhua Lv, Lianfeng Liu, Ping Zhang   +5 more
doaj   +2 more sources

Morphometric measurements of intraoral anatomy in children with Beckwith-Wiedemann syndrome: a novel approach [PDF]

Orphanet Journal of Rare Diseases
Background An easy-to-use tool to objectively measure intraoral anatomy with meaningful clinical correlations may improve care for patients with Beckwith-Wiedemann syndrome (BWS), who commonly have symptomatic macroglossia.
Dominic J. Romeo, Andrew M. George, Jonathan H. Sussman, Manisha Banala, Andrew Wiemken, Meagan Wu, Jinggang J. Ng, Jesse A. Taylor, Richard J. Schwab, Christopher M. Cielo, Jennifer M. Kalish   +10 more
doaj   +2 more sources

Beckwith-Wiedemann syndrome mimicking the classical form of congenital adrenal hyperplasia in newborn screening [PDF]

Archives of Endocrinology and Metabolism
SUMMARY Beckwith-Wiedemann syndrome (BWS) is a common genetic congenital disease characterized by somatic overgrowth and its broad clinical spectrum includes pre- and post-natal macrosomia, macroglossia, visceromegaly, increased risk of neonatal ...
Jéssica Mallmann Erbes Schaefer Martins, Barbara Leitao Braga, Klevia Nunes Feitosa Sampaio, Tamires de Souza Garcia, Juliana Van de Sande Lee, Edson Cechinel, Genoir Simoni, Marilza Leal Nascimento, Paulo Cesar Alves da Silva, Maria C. V. Fragoso, Tania A. A. S. Bachega, Mirian Y. Nishi, Berenice B. Mendonca   +12 more
doaj   +2 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, Cheryl, Shuman, J Bruce, Beckwith   +2 more
  +5 more sources

Beckwith-Wiedemann Syndrome: deciphering the genetic and clinical complexity - A case report with literature review [PDF]

Romanian Journal of Pediatrics, 2023
Beckwith-Wiedemann syndrome (BWS) is a rare and heterogeneous genetic condition characterized by overgrowth, organomegaly, and increased vulnerability to embryonal tumors.
Astrit M. Gashi, Brikene Elshani
doaj   +1 more source