Beckwith Wiedemann Syndrome
[for Professionals mainly]
EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME
EMG SYNDROME
WIEDEMANN-BECKWITH SYNDROME; WBS
Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).
Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder

Beckwith Wiedmann Syndrome
Rosanna Weksberg, PhD, MD, et al.
[for Professionals mainly]
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 reproduction.

Beckwith Wiedemann syndrome
Sandra R. Silva, MD, et al. theFetus.net, May 31, 2002
Concerned with prenatal aspects. Nicely illustrated … Untreated neonatal hypoglycemia is an important complication and may result in further cerebral dysfunction, such as seizures, mild to moderate mental retardation, or neonatal death in more severe cases. Macroglosia can cause variable complications ranging from feeding difficulties to airway obstruction and death … Neonatal mortality rate is approximately 21% ...

Glosectomia parcial en un paciente con el sindrome de Beckwith Wiedemann [PDF]
Dr. Manuel Estrada Sarmiento, Rev Cubana Estomatol 1998; 35(1):21-24
[Spanish]
… Se describe … un nino de 12 anos de edad con el sindrome de Beckwith Wiedemann, … macroglosia, entidat patologica que puede modificar severamente el desarrollo de los dientes, … Fue tratado con resultados satisfactorios mediante la glosectomia parcial. Se detalla la tecnica quirugica …

Beckwith Wiedemann Syndrome
I.B.I.S. Birth Defects, February 15, 2002
[Ukrainian]

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Last Updated: 2023/07/20

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