Association of the Beckwith — Wiedemann and Prune Belly Syndromes

Hepatoblastoma and prune belly syndrome: a potential association

“…These include proven genetic, prenatal, and perinatal factors that confer risk of HBL, as well as a variety of potential intrauterine exposures that have been described in association with HBL (Table S1). Of note, we found no evidence to support a diagnosis of BWS in these patients, despite case reports in the literature of potential overlap between PBS and BWS [17][18][19][20] and the well-accepted association of HBL with BWS [7]. While 75% of the patients in our study were born prematurely, two separate studies have found that, after adjusting for birth weight, prematurity does not confer HBL risk [21,22].…”

Prenatal diagnosis of Beckwith–Wiedemann syndrome

“…There is an array of manifestations: macroglossia, gigantism, omphalocele, visceromegaly, hemihyperplasia, seizures (if neonatal hypoglycemia is present), prominent facial nevus flammeus, distinctive ear creases on the lobes, and post-auricular pits (Table 1). Urogenital malformations include renal medullary dysplasia, fetal lobulations of the kidney, and prune belly syndrome (Knight et al, 1980;Shah and Metlay, 1990). Specific renal abnormalities include nephromegaly (25%), collecting system abnormalities (11%), and renal cysts (11%) (Goldman et al, 2002).…”

Giant omphalocele and “prune belly” sequence as components of the Beckwith–Wiedemann syndrome

“…Association of BWS and ''prune belly'' sequence has been described in clinical reports, without molecular analysis of 11p15.5 region [Knight et al, 1980;Watanabe and Yamanaka, 1990;Silengo et al, 2002]. In the sole familial case, two children were born to young, nonconsanguineous parents; the first child had classical BWS with macrosomia, macroglossia, and facial dysmorphism, associated with obstructive uropathy, and unilateral cryptorchidism.…”