Article
Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study.
Journal of pediatric surgery - 1 Oct 2017
Costanzo Sara, Spaccini Luigina, Pio Luca, Mattioli Girolamo, Virgone Calogero, Dall'Igna Patrizia, Iacobelli Barbara, Inserra Alessandro, Brisighelli Giulia, Fagnani Anna Maria, Leva Ernesto, Giannotti Giulia, Cheli Maurizio, Frumento Paolo, Riccipetitoni Giovanna
Abstract excerpt
BACKGROUND/PURPOSE: Currarino syndrome (CS) phenotype, initially described as the triad of hemisacrum, anorectal malformation (ARM) and presacral mass, can be extremely variable. The triad is often incomplete and 3 main CS phenotypical subtypes have been described: Complete, Mild and Minimal. Various associated malformations are often present. Mutations in the MNX1 gene are the main genetic background of CS,...
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