CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2024; 11(01): 071-075
DOI: 10.1055/s-0044-1786354
Case Report

Understanding Caudal Dysplasia Sequence: Three Case Reports

1   Department of Radiology, Kaashi Ultrasound Clinic, Noida, Uttar Pradesh, India
2   Department of Radiology, Yatharth Superspeciality Hospitals, Noida, Uttar Pradesh, India
,
Sanheeta Dasgupta
3   Department of Obstetrics and Gynecology, Cloud Nine Hospital, Motherhood Hospital, Noida, Uttar Pradesh, India
,
Tanveer Aujla
4   Department of Obstetrics and Gynecology, Motherhood Hospital, Noida, Uttar Pradesh, India
,
Manju Gupta
4   Department of Obstetrics and Gynecology, Motherhood Hospital, Noida, Uttar Pradesh, India
,
Gaurav Kumar
5   Department of Physical Education, Hans Raj College, New Delhi, India
› Author Affiliations
Funding None.

Abstract

Caudal dysplasia or caudal regression sequence is a congenital malformation that is characterized by maldevelopment of the lower half of the body with variable involvement of the gastrointestinal, genitourinary, skeletal, and nervous system. Most cases are sporadic and associated with the presence of a single umbilical artery. We report three cases with varying morphological spectrum of caudal dysplasia diagnosed during the first trimester ultrasound.



Publication History

Article published online:
19 April 2024

© 2024. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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  • References

  • 1 Ranjit I, Kylat MB. Caudal regression syndrome. Children (Basel) 2020; 7: 211
  • 2 Palacios-Marqués A, Oliver C, Martín-Bayón T, Martinez-Escoriza JC. Prenatal diagnosis of caudal dysplasia sequence associated with undiagnosed type I diabetes. BMJ Case Rep 2013; 2013: 1136
  • 3 Verma P, Bhardwaj D, Sinha SK, Heer AK. Sirenomelia: a rare congenital anomaly. J South Asian Fed Obstet Gynecol 2017; 9 (03) 271-273
  • 4 Shojaee A, Ronnasian F, Behnam M, Salehi M. Sirenomelia: two case reports. J Med Case Rep 2021; 15 (01) 217
  • 5 Rani VU, Rao NS, Kumar CJ, Saritha S. Caudal regression syndrome (sirenomelia) and its pathogenesis correlation: a case report. Int J Res Med Sci 2015; 3 (11) 3406-3411
  • 6 Kazi AI, Iqbal Y, Kazi SE. First trimester diagnosis of sirenomelia. J Foetal Med 2015; 2: 187-190
  • 7 Akhtar N, Noor N, Pawar M. Mermaid and its association with single umbilical artery: review of literature. Int J Health Sci Res 2015; 5 (12) 440-443
  • 8 Stevens SJC, Stumpel CTRM, Diderich KEM. et al. The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene. Clin Genet 2022; 101 (02) 183-189
  • 9 Stevenson RE. Common pathogenesis for sirenomelia, OEIS complex, limb-body wall defect, and other malformations of caudal structures. Am J Med Genet A 2021; 185 (05) 1379-1387
  • 10 Kanagasabai K, Bhat V, Pramod GK, Patil SJ, Kiranmayi S. Severe caudal regression syndrome with overlapping features of VACTERL complex: antenatal detection and follow up. BJR Case Rep 2016; 3 (02) 20150356
  • 11 Sahu L, Singh S, Gandhi G, Agarwal K. Sirenomelia: a case report with literature review. Int J Reprod Contracept Obstet Gynecol 2013; 2 (03) 430-432