Work

P321: Expanding the phenotypic spectrum of Currarino syndrome with cardiac anomalies

Year: 2023

Type: article

Abstract: Currarino Syndrome is a rare congenital malformation caused by partial or whole gene deletion, as well as heterozygous pathogenic single nucleotide variants involving the MNX1 gene on chromosome 7q36.3. The traditional triad of Currarino syndrome includes a presacral mass, sacral agenesis, and an anorectal anomaly. Other manifestations have been previously reported in this syndrome including Hirschsprung’s disease, tethered cord, Mullerian duct anomalies, genitourinary findings, developmental delay, musculoskeletal deformities, and eye complications.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2023.100349

Authors: Vanina Taliercio, Gulsen Akay, Pavalan Panneer Selvam, Lorenzo Botto, Hunter Underhill

Institutions: University of Utah, Huntsman Cancer Institute

Language: English

Topic: Congenital gastrointestinal and neural anomalies

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,200