Article ID Journal Published Year Pages File Type
4156543 Journal of Pediatric Surgery 2012 4 Pages PDF
Abstract

We describe a male infant presenting in the neonatal period with bowel obstruction who had features of anal stenosis, a presacral teratoma, and a sacral anomaly consistent with Currarino's syndrome. Initial management involved a defunctioning colostomy followed by a posterior sagittal excision of the teratoma and repair of the anorectal defect. The proband's eldest sister is also affected with features of Currarino's syndrome but was diagnosed later in life. The proband, his sister, and the mother have been identified to have the HLXB9 mutation mapped to chromosome 7q36.

Related Topics
Health Sciences Medicine and Dentistry Perinatology, Pediatrics and Child Health
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