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Association of Cloacal Anomalies, Caudal Duplication, and Twinning

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Pediatric and Developmental Pathology

Abstract

Cloacal anomalies exhibit a wide variety of morphologic types and accompanying clinical severity. The association of malformations of the cloaca with partial, complete, or conjoined twinning has been appreciated for some time, but, with the advent of prenatal ultrasound technology, appears to occur with a greater frequency than once thought. This observation has important implications for pathogenesis. We present 2 representative cases, a 19-week-old female fetus with duplication of several caudal structures and a 21-week-old male fetus with cloacal exstrophy variant and demised co-twin with lower abdominal wall defect, extruded intestinal tract, absent external genitalia, and imperforate anus. These findings and previously published theories suggest that certain models of monozygotic twinning may apply to the pathogenesis of cloacal anomalies. Specifically, the partial or complete duplication of the organizing center within a single embryonic disc may increase the risk of mesodermal insufficiency and thus account for the failure of complete development of the cloacal membrane and consequent exstrophy or other aberration.

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Acknowledgments

We are grateful for the expert consultation afforded us in case 2 by Michael E. Mitchell, MD.

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Authors and Affiliations

  1. Department of Laboratories (A-6901), Children’s Hospital and Regional Medical Center, 5371, Seattle, WA, 98105, USA

    Joseph R. Siebert, Joe C. Rutledge & Raj P. Kapur

  2. Department of Pathology, University of Washington, 357470, Seattle, WA, USA

    Joseph R. Siebert & Raj P. Kapur

  3. Department of Laboratory Medicine, University of Washington, Seattle, WA, 98195, USA

    Joe C. Rutledge

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  1. Joseph R. Siebert
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Correspondence to Joseph R. Siebert.

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Siebert, J.R., Rutledge, J.C. & Kapur, R.P. Association of Cloacal Anomalies, Caudal Duplication, and Twinning. Pediatr Dev Pathol 8, 339–354 (2005). https://doi.org/10.1007/s10024-005-1157-6

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