Beckwith-Wiedemann Syndrome: Management & Treatment
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To all risky pregnancies, intermittent screens are made available and include measurements of nuchal translucency during weeks 10-14 along with an ultrasound during weeks 18 to 20 and 25 to 32. If molecular defects are absent, measuring serum alpha-fetoprotein (AFP) should be presented (Weksberg et al., 2009).
BWS patients may require frequent feeding or diazoxide to treat their hypoglycemia. Hypoglycemia screening should be performed in the first few days after the child's birth. If BWS is diagnosed or suspected, tumor surveillance should be initiated. Serum AFP can be measured periodically up to age 4 for early detection of hepatoblastoma as part of tumor surveillance.
Children with abdominal wall defects often require surgical procedures. The severity of this defect may range from omphalocele to umbilical hernia and diastasis recti. An abdominal ultrasound scan should be done every 3 months until 8 years.
A surgery should be conducted before age 4 to reduce the size of the tongue (see pictures 1&2) once the child's tongue protrude and interferes with speech and dental development.
In least severe cases, physiotherapy and conservative orthopedic treatment are needed, but in most severe cases of hypertrophy surgical procedures are needed once the child reaches puberty.
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