Donald School Journal of Ultrasound in Obstetrics and Gynecology

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VOLUME 14 , ISSUE 2 ( April-June, 2020 ) > List of Articles


Rare and Interesting Case of Urorectal Septum Malformation

Rohan D Patel, Dinesh M Patel, Sonal Panchal, Shreya R Patel, Chaitanya Nagori

Keywords : Cloacal abnormality, Urorectal septum, URSM sequence

Citation Information : Patel RD, Patel DM, Panchal S, Patel SR, Nagori C. Rare and Interesting Case of Urorectal Septum Malformation. Donald School J Ultrasound Obstet Gynecol 2020; 14 (2):167-171.

DOI: 10.5005/jp-journals-10009-1639

License: CC BY-NC 4.0

Published Online: 30-07-2020

Copyright Statement:  Copyright © 2020; The Author(s).


The urorectal septum malformation sequence is a rare malformation involving various organ systems, mainly gastrointestinal and genitourinary. Most of the malformations are difficult to be diagnosed by ultrasound antenatally but are easily diagnosed postnatally either soon after birth or within first year of life. We are presenting a unique case of urorectal malformation, which has survived till adulthood without any complications.

  1. Escobar LF, Weaver DD, Bixler DB, et al. Urorectal septum malformation sequence. Am J Dis Child 1987;141(9):1021–1024. DOI: 10.1001/archpedi.1987.04460090098038.
  2. Wheeler PG, Weaver DD, Obleime MO, et al. Urorectal septum malformation sequence: report of thirteen additional cases and review of the literature. Am J Med Genet 1997;73(4):456–462. DOI: 10.1002/(SICI)1096-8628(19971231)73:4<456::AID-AJMG15>3.0.CO;2-Q.
  3. Wheeler PG, Weaver DD. Partial urorectal septum malformation sequence: a report of 25 cases. Am J Med Genet 2001;103(2):99–105. DOI: 10.1002/ajmg.1510.
  4. Williams IV DH, Fitchev P, Policarpio-Nicolas MLC, et al. Urorectal septum malformation sequence. Urology 2005;66(3):657. DOI: 10.1016/j.urology.2005.03.003.
  5. Jo Mauch T, Albertine KH. Urorectal septum malformation sequence: insights into pathogenesis. Anat Rec 2002;268(4):405–410. DOI: 10.1002/ar.10180.
  6. Chien JC, Chen SJ, Tiu CM, et al. Is urorectal septum malformation sequence a variant of the vertebral defects, anal atresia, tracheoesophageal fistula, renal defects and radial dysplasia association? report of a case and a review of the literature. Eur J Pediatr 2005;164(6):350–354. DOI: 10.1007/s00431-005-1630-2.
  7. Lubusky M, Prochazka M, Dhaifalah I, et al. Concordant partial urorectal septum malformation sequence in monozygotic twins. Am J Med Genet A 2006;140(24):2828–2831. DOI: 10.1002/ajmg.a. 31523.
  8. Escobar LF, Heiman M, Zimmer D, et al. Urorectal septum malformation sequence: prenatal progression, clinical report, and embryology review. Am J Med Genet A 2007;143A(22):2722–2726. DOI: 10.1002/ajmg.a.31925.
  9. Kanamori Y, Iwanaka T, Nakahara S, et al. Survival in a neonate with complete urorectal septum malformation sequence after fetal vesico-amniotic shunting for a prominently dilated cloaca. Fetal Diagn Ther 2008;24(4):458–461. DOI: 10.1159/000177038.
  10. Jain D, Sharma MC, Kulkarni KK, et al. Urorectal septum malformation sequence: a report of seven cases. Cong Anom 2008;48(4):174–179. DOI: 10.1111/j.1741-4520.2008.00200.x.
  11. Tennant PW, Glinianaia SV, Wellesley D, et al. Epidemiology of partial urorectal septum malformation sequence (or “persistent cloaca”): a population-based study in seven regions of England and wales, 1985–2010. Arch Dis Child Fetal Neonatal Ed 2014;99(5):F413–F418. DOI: 10.1136/archdischild-2014-306027.
  12. Aggarwal S, Phadke SR. Recurrence of urorectal septum malformation sequence spectrum anomalies in siblings: time to explore the genetics. Am J Med Genet A 2013;161A(7):1718–1721. DOI: 10.1002/ajmg.a.35950.
  13. Shah K, Nayak SS, Shukla A, et al. Spectrum of urorectal septum malformation sequence. Congenital Anomalies 2016;56(3):119–126. DOI: 10.1111/cga.12149.
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