Patterns of inheritance in familial prune belly syndrome

Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency

“…The smooth muscle fibers and glands of the prostate are reduced. PBS is known to be causally heterogeneous: most cases are sporadic (with a M/F sex ratio of 19:1), but autosomal recessive, autosomal dominant, and X-linked pedigrees have been reported [Grenet et al, 1972;Adeyokunnu and Familusi, 1982;Gaboardi et al, 1982;Darmon et al, 1992;Balaji et al, 2000;Chan and Bird, 2004;Ramasamy et al, 2005]. Epigenetic form of PBS have been reported, such as hypomethylation of KCNQ1OT1 gene in the association of prune belly and Beckwith Wiedemann syndrome [Sinico et al, 2004] or multiple loss of methylation in 6q24 (TNDM) and also at the loci of IGF2R (6q26), DIRAS3 (1p31), and PEG1 (7q32) in a monozygotic twin with prune belly and transient neonatal diabetes [Laborie et al, 2010].…”

Pseudo prune belly syndrome

“…The incidence varies between one in 35,000 to one in 50,000 with greater predominance in males 1,2 . Mutation is usually sporadic although familial forms are seen 3 . It possibly occurs due to an aberration in mesenchymal development that combines to produce abdominal, urologic and testicular abnormalities.…”

Síndrome Prune Belly: sobrevida de un paciente con insuficiencia renal

“…Si bien su etiología no está bien establecida, se ha establecido su relación con la herencia genética familiar (10). Recientemente, se ha descrito su asociación con una microdeleción de novo a nivel del 17q12 (11), que codifica el gen del factor nuclear-1-beta a nivel del hepatocito, y podría estar relacionada con la producción del fenotipo SPB a través de un mecanismo de hipoplasia prostática y ureteral que resulta en uropatía obstructiva severa con distensión urinaria y abdominal.…”