Genetics and environment in embryogenesis of sirenomelia sequence: case report
Keywords:
Ectromelia, Organogenesis, Prenatal Diagnosis, Limb Deformities, CongenitalAbstract
Introduction: the sirenomelia sequence is a primary defect that occurs in the mesoderm of the posterior middle axis of the embryo and turns out the fusion of the primordium of limbs in its fibular margins, with absence or complete development of the intercurrent caudal structures.
Case report: a 36-year-old pregnant woman with a reproductive history of three previous pregnancies and two deliveries without abortions, who in the genetic risk assessment consultation, classified as increased genetic risk (risk of chromosomal alterations). A history of possible exposure to teratogens was collected. Multiple congenital defects were observed in the study of the fetus by means of ultrasound. Genetic counseling and reproductive options are provided in multidisciplinary team office to both members of the couple. Both gave their consent for the interruption of pregnancy. The pathological study confirmed multiple congenital anomalies.
Conclusions: major congenital anomalies, that are part of the sirenomelia sequence, can be diagnosed in the prenatal stage by means of Ultrasonography Studies during the first and second trimesters of pregnancy. The definitive and classified diagnosis can be completed after the pathological study of the fetus. Genetic counseling is improved and based on the consideration of the alterations in embryogenesis with its genetic and environmental aspects; where the concluding aspects are personalized considering the pregnant woman, her family, as well as her social and personal situation.
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References
2. SACRAL DEFECT WITH ANTERIOR MENINGOCELE. OMIM # 600145. [Citado 03/01/2020] On line mendelian inheritance in man: Disponible en: http://omim.org/entry/600145
3. Tingting Xu, Xiaodong Wang, Hong Luo, Haiyan Yu. Sirenomelia in twin pregnancy. A case report and literature review. Medicine (Baltimore) [Internet]. 2018 [citado 03/01/2020]; 97 (51): e13672. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320003/
4. Mirzapur Pegah, Rezakhani Leila, Khazaei Mozafar. Sirenomelia: Case Report and Review of the Literature. Glob J Reprod Med [Internet]. 2018 [citado 03/01/2020]; 3(5): [Aprox.4p.]. Disponible en: https://juniperpublishers.com/gjorm/pdf/GJORM.MS.ID.555624.pdf
5. Vasantan Tanigasalam, Mamatha Gowda, Nishad Plakkal, B. Adhisivam, B. Vishnu Bhat. Sirenomelia with VACTERL association- a rare anomaly. Pediatrics and Neonatology [Internet]. 2018 [citado 03/01/2020]; 59: [Aprox.2p.]. Disponible en: https://www.pediatr-neonatol.com/article/S1875-9572(16)30249-2/pdf
6. Navneet Sharma, Neeraj Kumar, Anupam Jhobta, Rohit Bhoil. Sirenomelia, the Fetal ‘Mermaid’: Ultrasound and Magnetic Resonance Features. Exploratory Research and Hypothesis in Medicine [Internet]. 2017 [citado 03/01/2020]; 2(3): [Aprox.4p.]. Disponible en: http://www.xiahepublishing.com/2472-0712/ArticleFullText.aspx?sid=2&id=10.14218%2FERHM.2016.00026
7. Ramphul K, Mejias S G, Ramphul-Sicharam Y. Mermaid Syndrome: A Case Report in Mauritius. [Internet]. 2018 [citado 03/01/2020]; 10(2): e2210. Disponible en: https://assets.cureus.com/uploads/case_report/pdf/11122/1584731334-20200320-3061-1yr3oa.pdf
8. Selvaraj K, Selvaraj P, Sivapriya S, Annigeri V, Suganthi V. A rare case report of sirenomelia following intracytoplasmic sperm injection embryo transfer. J Hum Reprod Sci [Internet]. 2020 [citado 03/06/2020]; 13:71-4. Disponible en: http://www.jhrsonline.org/article.asp?issn=0974-1208;year=2020;volume=13;issue=1;spage=71;epage=74;aulast=Selvaraj
9. Tayyar A, Tayyar A, Baki Senturk M, Disli Gurler A, Akgun H, Tayyar M. Prenatal diagnosis of sirenomelia in the first trimester. Medicine Science [Internet]. 2017 [citado 03/01/2020]; 6(1): [Aprox.2p.].Disponible en: https://www.ejmanager.com/mnstemps/53/531464338100.pdf?t=155241586
10. Álvarez Pita J, Marín Álvarez T, Rodríguez González B, Orozco Hechavarría N. Un caso de sirenomelia. Rev. Ciencias Médicas de Pinar del Río [Internet]. 2017 [citado 03/01/2020]; 21(2): [Aprox.4p.].Disponible en: http://www.medigraphic.com/pdfs/pinar/rcm-2017/rcm172o.pdf
11. Takako Sugiura, Yuka Sato, Naoyuki Nakanami, Kiyomi Tsukimori. Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis. Case Reports in Obstetrics and Gynecology [Internet]. 2018 [citado 03/01/2020]; [Aprox.5p.]. Disponible en: https://www.hindawi.com/journals/criog/2018/7058253/
12. Yaqouby HNA, Badi MMA, Saidi FMA. A case of sirenomelia associated with hypoplastic left heart with a healthy co twin: a rare entity. Case Rep Pediatr [Internet]. 2018 [citado 03/01/2020]; [Aprox.3p.]. Disponible en: https://www.hindawi.com/journals/cripe/2018/9361745/
13. Thomas D Bird. Myotonic Dystrophy Type 1. GeneReviews [Internet]. 2019 [citado 03/06/2020]; [Aprox.16p.]. Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK1165/
