Children with Idiopathic Hemihypertrophy and Beckwith-Wiedemann Syndrome Have Different Constitutional Epigenotypes Associated with Wilms Tumor

Beckwith–Wiedemann syndrome and Wilms’ tumour

Patients with rare overgrowth disorders, such as Beckwith–Wiedemann syndrome and Simpson–Golabi– Behmel syndrome, are predisposed to embryonal tumours, including Wilms’ tumour of the kidney. Therefore, these disorders offer a link between hyperplastic growth and cancer. Genetic lesions at chromosome 11p15 have been associated with Beckwith–Wiedemann syndrome and Wilms’ tumour for several years ...

Screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndromes: a cost-effective model.

BACKGROUND We undertook a cost-benefit analysis of screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndrome (BWS), a known cancer predisposition syndrome. The purpose of this analysis was twofold: first, to assess whether screening in children with BWS has the potential to be cost-effective; second, if screening appears to be cost-effective, to determine which p...

Beckwith-wiedemann Syndrome with Cleft Palate

BECKWITH-WIEDEMANN SYNDROME WITH CLEFT PALATE (ABSTRACT): BeckwithWiedemann syndrome is a rare congenital disorder. Early diagnosis, proper counselling of parents is essential because of significant risk of subsequent development of malignant tumours, associated with this syndrome. Association of cleft palate in this syndrome is extremely rare. Specific difficulties and risks posed by the crani...

[Beckwith-Wiedemann syndrome].

Beckwith-Wiedemann syndrome.

some llp15.3-.pter and monosomic for chromosome 5p15.3-.pter (karyotype 46,XY,der(5)t(5;ll)(pl5.3;pl5.3)pat). Paternally derived duplications of llpl5.5 are associated with Beckwith-Wiedemann syndrome (BWS) and both family members trisomic for llpl5.5 had prenatal overgrowth (birth weights >97th centile), macroglossia, coarse facial features, and broad hands. We review the clinical features of ...