Journal of Pediatric Surgery Case Reports (Aug 2022)

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

  • Erin Swieter,
  • Jason McKee,
  • Jessica Ming,
  • Jessie R. Maxwell

DOI
https://doi.org/10.1016/j.epsc.2022.102328
Journal volume & issue
Vol. 83
p. 102328

Abstract

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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.

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