LONGEVITY IN PATAU OR EDWARDS SYNDROMES: A CASE SERIES
DOI:
https://doi.org/10.18554/acbiobras.v8i2.8677Keywords:
síndrome da trissomia do cromossomo 13, síndrome da trissomia do cromossomo 18, cariótipo, sobrevidaAbstract
Patau and Edwards syndromes involve chromosomes 13 and 18, respectively. They are usually caused by trisomies, exhibit severe congenital anomalies, and are associated with high mortality and morbidity. Our study aimed to describe patients with Patau or Edwards syndrome and high survival rates. Also, if possible, identify the main characteristics associated with such longevity. An electronic search was conducted in PubMed, considered the leading database in the healthcare field. The inclusion criteria were: case reports, with full text freely available, publication date within the last 10 years, and in English and Portuguese. Twenty-two studies were included, 13 of which involved patients with Patau syndrome and nine with Edwards syndrome. Patients ranged in age from 1 year and 6 months to 26 years, and five were adults (≥18 years). Most patients with Edwards syndrome were women (n=7, 77.8%), and five had complete trisomy of chromosome 18 (55.6%). Surgical procedures such as gastrostomy, tracheostomy, and cardiac surgery predominated (n=12; 54.5%) over multidisciplinary follow-up (n=6; 27.3%). The patients described here far exceeded the life expectancy for these chromosomal disorders, demonstrating that prolonged survival is possible despite these life-limiting conditions. Multidisciplinary follow-up and surgery are likely the primary drivers of the clinical outcomes achieved by the individuals presented in this review, contributing to their reaching a much older age than that expected for patients with these chromosomal disorders.
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