Sirenomelia, or mermaid syndrome, is an extremely rare, lethal congenital malformation, occurring at a frequency of between 1.5 and 4.2 cases per 100,000 pregnancies. It is characterized by the partial or complete fusion of the lower limbs, along with malformations of the gastrointestinal and urogenital tracts. Its pathogenesis is not fully understood, with a multifactorial etiology involving genetic, teratogenic, and vascular factors. Depending on the associated malformations, death occurs in utero or within the first few days after birth. Prenatal diagnosis and imaging studies allow for reliable recognition and diagnosis. We report a case of sirenomelia diagnosed after birth, following a clinical examination of the newborn.
References
[1]
Kitova, T.T., Uchikova, E.H., Uchikov, P.A. and Kitov, B.D. (2020) Sirenomelia Associated with VACTERL and VACTERL-H Syndrome. International Journal of Morphology, 38, 793-798. https://doi.org/10.4067/s0717-95022020000300793
[2]
Charlier, P., Valat, A., Boute, O., Petit, S., Chafiotte, C., Huynh-Charlier, I., et al. (2008) Sirénomélie entrant dans le cadre d’une association VACTERL: À propos de trois cas. Annales de Pathologie, 28, 176-181. https://doi.org/10.1016/j.annpat.2008.06.001
[3]
Diarra, O., Traore, O., Guindo, I., Dembele, M., Traore, S., Kouma, A., et al. (2022) Ultrasound of the Siren Syndrome (Sirenomelia) in the District of Bamako Apropos of a Case. Open Journal of Medical Imaging, 12, 165-170. https://doi.org/10.4236/ojmi.2022.123017
[4]
Lubala, T.K., Mukuku, O. and Mutombo, A.M. (2014) Sirénomélie (Mermaid Syndrome): Description du premier cas Congolais et revue de la littérature. Pan African Medical Journal, 17, Article 162. https://doi.org/10.11604/pamj.2014.17.162.3934
[5]
Sikandar, R. and Munim, S. (2009). Sirenomelia, the Mermaid Syndrome: Case Report and a Brief Review of Literature. Journal of the Pakistan Medical Association, 59, 721-723.
[6]
Guidera, K.J., Raney, E., Ogden, J.A., Highhouse, M. and Habal, M. (1991) Caudal Regression: A Review of Seven Cases, Including the Mermaid Syndrome. Journal of Pediatric Orthopaedics, 11, 743-747. https://doi.org/10.1097/01241398-199111000-00008
[7]
Ugwu, R.O., Eneh, A.U. and Wonodi, W. (2011) Sirenomelia in a Nigerian Triplet: A Case Report. Journal of Medical Case Reports, 5, Article No. 426. https://doi.org/10.1186/1752-1947-5-426
[8]
Morfaw, F.L. (2012) Sirenomelia in a Cameroonian Woman: A Case Report and Review of the Literature. Journal of Clinical Case Reports, 2, Article 426. https://doi.org/10.4172/2165-7920.1000183
[9]
Cissouma, A., Sylla, M., Coulibaly, M.B., Traoré, S.A., kissima Traoré, A., Togo, A.P., et al. (2021) Sirénomélie (Mermaid Syndrome) description du prémier cas dans la région de Sikasso, Mali et révue de la littérature. JCCRAfrica, 5, 439-442.
[10]
Abderrahmane Raouf Bouchaour, A.R.B. (2023) Sirénomélie (Mermaid Syndrome): Description du premier cas algérien et revue de la littérature. Algerian Journal of Medical and Health Research, 4, 120-126.
[11]
Ouguerzi, N., Belouad, M., Echerfaoui, O., Ayadine, A., Elhassani, M.M. and Kouach, J. (2024) Sirenomelia (Mermaid Syndrome): First Case in Morocco and Review of the Literature. Scholars International Journal of Obstetrics and Gynecology, 7, 314-317. https://doi.org/10.36348/sijog.2024.v07i07.005
[12]
Pennimpede, T., Cameron, D.A., MacLean, G.A., Li, H., Abu‐Abed, S. and Petkovich, M. (2010) The Role of CYP26 Enzymes in Defining Appropriate Retinoic Acid Exposure during Embryogenesis. Birth Defects Research Part A: Clinical and Molecular Teratology, 88, 883-894. https://doi.org/10.1002/bdra.20709
[13]
Safdar, E.A. and Safdar, N.A. (2024) Mermaid Syndrome—A Systematic Review. Journal of American Medical Science and research, 3, 25-27. https://doi.org/10.51470/amsr.2024.03.02.25
[14]
Stocker, J.T. and Heifetz, S.A. (1987) Sirenomelia. A Moprhological Study of 33 Cases and Review of the Literature. Perspectives in Pediatric Pathology, 10, 7-50.
[15]
Carbillon, L., Seince, N., Largillière, C., Bucourt, M. and Uzan, M. (2001) First-Trimester Diagnosis of Sirenomelia: A Case Report. Fetal Diagnosis and Therapy, 16, 284-288. https://doi.org/10.1159/000053929
[16]
Monteagudo, A., Mayberry, P., Rebarber, A., Paidas, M. and Timor-Tritsch, I.E. (2002) Sirenomelia Sequence: First-Trimester Diagnosis with Both Two-and Three-Dimensional Sonography. Journal of Ultrasound in Medicine, 21, 915-920. https://doi.org/10.7863/jum.2002.21.8.915
[17]
Patel, S. and Suchet, I. (2004) The Role of Color and Power Doppler Ultrasound in the Prenatal Diagnosis of Sirenomelia. Ultrasound in Obstetrics & Gynecology, 24, 684-691. https://doi.org/10.1002/uog.1758
