Prenatal diagnosis of cloacal anomaly: A case of unexpected anatomical abnormalities after birth

Abstract

We present the case of a late preterm infant with prenatal concerns for a cloacal anomaly with dilation of bowel and a small bladder. After birth the infant was found to have a presumed uterus didelphys, patent urachus, imperforate anus and total colonic agenesis. This constellation of clinical findings is not described in the literature and no syndrome fits this description. A chromosomal microarray showed a female with normal copy number. It remains unknown if these findings are associated with a syndrome not previously known or occurred as spontaneous changes.

Keywords

• Total colonic agenesis
• Imperforate anus
• Uterine didelphys
• Neonatal ileostomy