Article
The first case of mosaic MNX1 mutation in an adult female with features of Currarino syndrome.
Birth defects research - 1 Sept 2021
Romano Ferruccio, De Marco Patrizia, Ognibene Marzia, Di Duca Marco, Baldassari Simona, Pavanello Marco, Piatelli Gianluca, Zara Federico, Capra Valeria
Abstract excerpt
BACKGROUND: Currarino syndrome (CS) is a rare genetic condition characterized by the association of three major clinical signs: anorectal malformation (ARM), sacro-coccygeal bone defects, and presacral mass. Different kinds of ARM can be present such as anteriorly placed anus, imperforate anus, anorectal stenosis, rectal duplication, and fistulae. The presacral mass can be a benign teratoma, a dermoid or...
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