Edwards Syndrome: Family positive effects when life survival surpasses the expectation. Case report.

Autores

  • A. E. Chiaradia Medical Student at Federal University of Mato Grosso (Universidade Federal do Mato Grosso)
  • A. L. Yanai Full professor at Federal University of Mato Grosso and Hematologist and Pediatric Oncologist at Hospital Dois Pinheiros, Sinop, Mato Grosso.
  • A. Silva Medical Student at Federal University of Mato Grosso (Universidade Federal do Mato Grosso) http://orcid.org/0000-0002-8242-4215

DOI:

https://doi.org/10.36560/14220211291

Palavras-chave:

Edwards Syndrome, Trisomy 18, Survivorship, Medical Ethics

Resumo

Aim: Reporting the case of a patient with Edwards syndrome of above-average survival. Edwards syndrome is a chromosomal disorder with multiple and severe congenital malformations, a profound delay in neuropsychomotor development, and an average survival of around 2.5 to 14.5 days.

Description: Patient age of seven years and six months, female, who presented at birth, congenital heart disease, microcephaly, micrognathia, cutis marmorata, pectus escavatum and other typical alterations of Edwards Syndrome. Intensive interventions were performed, and karyotype exam confirmed full trisomy of chromosome 18. The patient currently undergoes intensive occupational and speech-language therapy, physiotherapy, and is stable.

Comments: Edwards syndrome has a reserved prognosis, and although it is proven that aggressive interventions improve the survival of these patients, there is still no consensus in neonatal resuscitation protocols, and there are differences in perception about prognosis and therapeutic recommendations. However, parental autonomy must always be considered, and it is known that patients who survive to childhood bring positive results in the family circle. The discussion of prognosis and therapy is necessary and should aim at the homogenization of medical conduct

Referências

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Publicado

2021-01-26

Como Citar

Chiaradia, A. E., Yanai, A. L., & Silva, A. (2021). Edwards Syndrome: Family positive effects when life survival surpasses the expectation. Case report. Scientific Electronic Archives, 14(2), 66–69. https://doi.org/10.36560/14220211291

Edição

v. 14 n. 2 (2021): Scientific Electronic Archives

Seção

Ciências da Saúde

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