Sirenomelia
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Keywords

Sirenomelia
Caudal Regression Syndrome
Mermaid Syndrome
Potter's Facies

How to Cite

Shinde, D. M., Shinde , D. A. ., Kumar , D. S. ., Mhaske , D. S. N. ., & Waydande , D. S. . (2022). Sirenomelia. VIMS Health Science Journal , 9(3), 81-83. https://doi.org/10.46858/vimshsj.9304

Abstract

Sirenomelia is a rare and fatal congenital defect characterized by varying degrees of lower limb fusion, thoracolumbar spinal anomalies, sacrococcygeal agenesis, genitourinary, and anorectal atresia.There is a strong association with maternal diabetes where relative risk is 1:200-250 and up to 22% of fetuses with this anomaly will have mothers with diabetes.A 34-year-old unbooked G3P2L2 at 35 weeks 5 days of gestational age with previous two live vaginal birth was admitted in the labor room with pain in the abdomen. She had no history of prior antenatal care and belonged to a tribal community with lower socioeconomic status.She was otherwise healthy with no known history of genetic or congenital anomaly in her family. Baby not cried after birth , no activity and hypotonia present . Immediately intubated with ET NO 3 and bag and tube ventilation given and shifted to NICU  and put on ACMV mode of ventilationAnomalies observed in sirenomelia are described as the most severe form of caudal regression syndrome. Fusion of the lower extremities, presence of single umbilical and persistent vitelline artery are major features of sirenomelia . Although the primary molecular defect resulting in sirenomelia remains unclear, two main pathogenic hypotheses namely the vascular steal hypothesis and the defective blastogenesis hypothesis are proposed.Sirenomelia is a rare and lethal congenital anomaly. When diagnosed antenatally, termination should be offered. However, prevention is possible and should be the goal.

https://doi.org/10.46858/vimshsj.9304
PDF Downloads : 23    VIEW PDF

References

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Reddy KR, Srinivas S, Kumar S, Reddy S, Prasad H, Irfan GM. Sirenomelia: a rare presentation. J Neonatal Surg. 2012 Jan 1;1(1):7.

Aslan, H., Yanik, H., Celikaslan, N. et al. Prenatal diagnosis of Caudal Regression Syndrome : a case report.BMC Pregnancy Childbirth 1, 8 (2001).

González-Quintero VH, Tolaymat L, Martin D, Romaguera RL, Rodríguez MM, Izquierdo LA. Sonographic diagnosis of caudal regression in the first trimester of pregnancy. J Ultrasound Med. 2002 Oct;21(10):

Duhamel B. From the Mermaid to Anal Imperforation: The Syndrome of Caudal Regression. Arch Dis Child. 1961 Apr;36(186)

Twickler D, Budorick N, Pretorius D, Grafe M, Currarino G. Caudal regression versus sirenomelia: sonographic clues. J Ultrasound Med. 1993 Jun;12(6)

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Duesterhoeft SM, Ernst LM, Siebert JR, Kapur RP. Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression-sirenomelia spectrum. Am J Med Genet A. 2007 Dec 15

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This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

Copyright (c) 2022 Dr. Mahesh Shinde, Dr. Abhijit Shinde , Dr. Sushrut Kumar , Dr. Sunil Natha Mhaske , Dr. Suresh Waydande

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