Macroglossia (enlarged tongue): This can cause difficulties with feeding, breathing, and speech.
Hemihypertrophy (uneven growth of one side of the body): This may lead to asymmetry in limb length or facial features.
Omphalocele (abdominal wall defect): This condition requires surgical correction.
Neonatal hypoglycemia (low blood sugar levels in newborns): It is crucial to monitor and manage this condition to prevent complications.
Visceromegaly (enlargement of internal organs): This might affect the liver, kidneys, and other organs.
How is BWS diagnosed?
The diagnosis of BWS is typically based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying changes in the 11p15 region. In some cases, a diagnosis may be made prenatally through ultrasound findings and genetic testing of the fetus.
Surgical intervention: To correct physical abnormalities such as omphalocele and macroglossia.
Monitoring for and managing hypoglycemia: This is crucial in the neonatal period.
Regular cancer screening: To detect and treat malignancies at an early stage.
Orthopedic management: For hemihypertrophy and associated complications.
Speech therapy: To address difficulties related to macroglossia.
What is the prognosis for children with BWS?
The prognosis for children with BWS varies depending on the severity of the symptoms and the presence of complications. With early diagnosis and appropriate management, many children with BWS can lead healthy lives. However, regular follow-ups and monitoring are essential to address potential issues promptly.
