Can beckwith Weidman syndrome/ spectrum present with a typical features
And if developed hepatoblastoma,
Is there a recurrence rate due to the underlying genetic error?
Yes, BWS present with features like polyhydramnios in the prenatal period followed by large for gestational age birth weight profiles (3.5 to 4.5kg), body asymmetry wherein one part appears bigger than other known as hemihyperplasia, large tongue, cleft lip/palate.
individuals with BWS are predisposed to have abdominal tumors, renal tumors like Wilms tumor, hepatoblastoma
It is essential to monitor and offer surveillance for the first 5 years of life
Yes BWS is having its inherited risk of embryonal tumors. Of that Hepatoblastoma has own risk according to the mechanism.
Hepatoblastoma
Loss of methylation at IC2 (maternal) - 0.7%
Gain of methylation at IC1 (maternal) - Unknown; rare
Paternal UPD - 3.5%
Heterozygous maternal CDKN1C pathogenic variants - Not increased
Classic BWS phenotype w/normal molecular genetic testing - 0.3%
reference - https://www.ncbi.nlm.nih.gov/books/NBK1394/
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