Edwards syndrome and its characteristics. Case study.
Abstract
Many fetuses with Edwards syndrome, which occurs in 1 in 6,000 newborns, die during the prenatal and fetal periods. The mortality rate of affected fetuses is very high, a little over 4% in the first year of life. The purpose of this research is to present the case of a patient with higher life expectancy, in order to provide new medical information. The characteristics of this symptom are low weight, protected chest, congenital heart disease, kidney abnormalities, crooked fingers and sloping feet. The case study shows almost normal weight, dysmorphic facial features, severe delay in psychomotor and cognitive development, feeding difficulties, dome-shaped palate, among others.
References
Cabrera, M., Ortiz, G., Alfonso, E, O., & Esteche, R. (2021). Síndrome de Edwards: desde el diagnóstico prenatal hasta el neonatólogo. Pediatría (Asunción): Órgano Oficial de la Sociedad Paraguaya de Pediatría, 48(3), 216-220. https://dialnet.unirioja.es/descarga/articulo/8206348.pdf
Cortivo, A., Troger, A., & Panis, L. (2021). Síndrome de Edwards con elevada sobrevida - relato de caso. Revista da Associacao Medica do Rio Grande do Sul, 65(3), 1-4. https://docs.bvsalud.org/biblioref/2022/06/1373517/rc-26861.pdf
Costa, M., & Ávila, S. (2017). Doble aneuploidía: síndromes de Klinefelter y Edwards (48, XXY,+ 18). Reporte de caso. Archivos argentinos de pediatría, 115(5), e282-e286. http://www.scielo.org.ar/pdf/aap/v115n5/v115n5a20.pdf
López, A. C., de León Ojeda, N. E., García, N. G., Torres, M. S., Martínez, A. B., & Rosales, L. M. (2021). Síndrome de isocromosoma 18q. Revista Cubana de Genética Comunitaria, 13(1), 1-7. http://www.revgenetica.sld.cu/index.php/gen/article/download/21/145
Powell-Hamilton, N. (2021). Trisomía 18. (sitio web Manual MSD versión para profesionales): Obtenido de: https://www.msdmanuals.com/es-ec/professional/pediatr%C3%ADa/anomal%C3%ADas-cromos%C3%B3micas-y-g%C3%A9nicas/trisom%C3%ADa-18
Sánchez, E. (2019). Síndrome de Edwards (Bachelor's thesis, Escuela Superior Politécnica de Chimborazo). http://dspace.espoch.edu.ec/bitstream/123456789/11874/1/94T00378.pdf
