Physicians should be aware of the manifestations of medullary sponge kidney and nephrocalcinosis in patients with Beckwith–Wiedemann syndrome. In addition to nephrocalcinosis, renal cysts, recurrent pain associated with infundibular stenoses, nephroblastomatosis, and Wilms tumor have also been reported.[3] As shown in our case presentation, patients with medullary sponge kidney usually form cal...

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 ...

(2000) Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. J Med Ge-net 37:921–926 Fitzpatrick GV, Soloway PD, Higgins MJ (2002) Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1. (2001) Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome. (1999) ...

BeckwithWiedemann syndrome, characterized by the triad of omphalocele, macroglossia, and gigantism, has a population incidence estimated at 1/13,700. This is likely an underestimate, because individuals with milder phenotypes may not be diagnosed. Some cases of isolated hemihyperplasia may, in fact, represent BeckwithWiedemann syndrome with reduced expressivity. Additional clinical features of ...

In an attempt to elucidate the role of methylation in parental imprinting at the IGF-II gene locus, for which imprinting has already been described in the mouse, we undertook an allele specific methylation study of the human IGF-II gene (mapped to 11p15.5) in a control population and in patients with Beckwith-Wiedemann syndrome. In control leucocyte DNA (16 unrelated adults and eight families),...