Abstract
Sirenomelia is an extremely rare anomaly characterised by varying degrees of fusion of lower limbs. Anomalies involving uro-genital tract, colo-rectal atresia and vertebral defects are often associated. Prognosis largely depends upon concomitant visceral malformations as well as the degree of fusion defect. Classical sirenomelia is incompatible with life although there are few report of survivors. Prenatal diagnosis, though possible, is difficult to make due to associated anhydramnios and anomalies. Ultrasound is the main diagnostic modality with fetal MRI playing a complementary role. We describe three cases of fetal sirenomelia that presented within a span of 1 year and propose possible vascular insult as the cause.
References
Kallen B, Castilla EE, Lancaster PA, Mutchinick O, Knudsen LB, Martinez-Frias ML. The cyclops and the mermaid: an epidemiological study of two types of rare malformation. J Med Genet. 1992;29:30–5.
Garrido AC, Haro E, González LD, Martínez FML, Bertocchini F, Ros MA. A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations. Dis Model Mech. 2011;4(3):289–99.
Stocker J, Heifetz SA. Sirenomelia: a morphological study of 33 cases and review of literature. Perspect Pediatr Pathol. 1987;10:7–50.
Das BB, Rajegowda BK, Bainbridge R, Giampietro PF. Caudal regression syndrome versus sirenomelia: a case report. J Perinatol. 2002;22(2):168–70.
Orioli IM, Amar E, Arteaga-Vazquez J, Bakker MK, Bianca S, Botto LD, et al. Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review. Am J Med Genet C Semin Med Genet. 2011;157C:358e73.
Vasanthan T, Mamatha G, Nishad PB, Adhisivam B, Vishnu B. Sirenomelia with VACTERL association-a rare anomaly. Pediatr Neonatol. 2018;59(4):410–41.
Stevenson RE. Limbs. In: Stevenson RE, Hall JG, editors. Human malformations and related anomalies. 2nd ed. New York: Oxford University Press; 2006. p. 835–925.
Anis F, Mohamed K, Soumaya G, Fethi Z, Anis C. The sirenomelia sequence: a case history. Clin Med Insights Case Rep. 2010;3:341–9.
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All the authors agree that there are no conflict of interest and there were no ethical issues involved. All the cases were part of project for which ethical clearance had been obtained from the institute.
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Gowda, M., Sharma, J., Thiagarajan, M. et al. Prenatal Diagnosis of Sirenomelia: Cluster of Three Cases. J. Fetal Med. 6, 35–39 (2019). https://doi.org/10.1007/s40556-019-00192-z
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DOI: https://doi.org/10.1007/s40556-019-00192-z