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PPM - Beckwith-Wiedemann Syndrome and Isolated Lat ...
Introduction and References
Introduction and References
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Pdf Summary
Beckwith-Wiedemann Syndrome and Isolated Lateralized Overgrowth (Isolated Hemihyperplasia or Hemihypertrophy) are congenital overgrowth disorders associated with an increased risk for embryonal tumors, specifically Wilms tumors and hepatoblastoma. The care of children with these syndromes involves ongoing longitudinal monitoring to detect kidney and liver malignancies early. <br /> <br />Beckwith-Wiedemann syndrome is characterized by macrosomia, macroglossia, hemihyperplasia, omphalocele, Wilms tumor, visceromegaly, adrenal cytomegaly, and neonatal hypoglycemia. The molecular basis includes loss or gain of methylation in certain chromosomal regions or pathogenic variants in specific genes. <br /> <br />Isolated Lateralized Overgrowth is defined as the enlargement of one side of the body, usually recognized at birth. The condition may result from an increase in cell growth, but the exact cause is unknown. It is usually non-progressive and does not change over time. Diagnostic criteria include clinical observation and radiographic measurement of body asymmetry. <br /> <br />Screening protocols for childhood cancers in both syndromes include regular abdominal and renal ultrasound scans, serum alpha-fetoprotein measurements, and evaluation for nephrocalcinosis. <br /> <br />It is important to differentiate these syndromes from other genetic syndromes associated with asymmetry and overgrowth, such as Proteus syndrome, Klippel-Trenaunay-Weber syndrome, and CLOVE syndrome. <br /> <br />Overall, these syndromes require ongoing monitoring and counseling to ensure early detection and management of potential cancerous tumors. Further research is needed to uncover the molecular basis of these syndromes and improve diagnostic methods.
Keywords
Beckwith-Wiedemann Syndrome
Isolated Lateralized Overgrowth
congenital overgrowth disorders
Wilms tumors
hepatoblastoma
longitudinal monitoring
macrosomia
macroglossia
hemihyperplasia
omphalocele
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