| Autor: |
López-Ríos V; Facultad de Medicina, Institución Universitaria Visión de Las Américas, Pereira, Colombia. ORCID: 0000-0002-3909-8151., Grajales-Marín E; Facultad de Medicina, Institución Universitaria Visión de Las Américas, Pereira, Colombia. ORCID: 0000-0002-9605-3179., Gómez-Zambrano V; Facultad de Medicina, Institución Universitaria Visión de Las Américas, Pereira, Colombia. ORCID: 0000-0003-4520-8836., Barrios-Arroyave FA; Facultad de Medicina, Institución Universitaria Visión de Las Américas, Pereira, Colombia. Dirección: Avenida de Las Américas 98-56, Sector Belmonte, Pereira, Colombia, Código Postal: 660001. Email: freddy.barrios@uam.edu.co. ORCID: 0000-0002-0990-1679. |
| Jazyk: |
Spanish; Castilian; English |
| Zdroj: |
Medwave [Medwave] 2020 Sep 03; Vol. 20 (8), pp. e8015. Date of Electronic Publication: 2020 Sep 03. |
| DOI: |
10.5867/medwave.2020.08.8015 |
| Abstrakt: |
Edwards syndrome or trisomy 18 is a complex entity that involves the musculoskeletal, craniofacial, cardiovascular, and neurological systems. Its genetics are varied, presenting both in a complete and mosaic type. Survival rarely exceeds the first year of life. Its phenotype characterization is not pathognomonic, so karyotype is essential for diagnosis, prenatally by amniocentesis and cordocentesis by FISH technique. We present the case of an eight-year-old girl who has survived with this condition despite presenting tetralogy of Fallot and serious cardiac malformations. Diagnosis began with prenatal screening ultrasound at 16 weeks and detailed ultrasound, with amniocentesis and amniotic fluid karyotype, with a result of 47 XX+18. She has been treated by multiple medical specialties, due to musculoskeletal, joint, neurological, metabolic, and cardiovascular complications that have limited her quality of life. The management of these patients requires a multidisciplinary medical team, and counseling for parents should include aspects related to survival, frequent complications, and risk-benefit to be evaluated before subjecting the minor to complex or corrective surgical interventions. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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