Edwards syndrome – phenotype, prognosis, ethical attitudes, professional and palliative care

Česká verzia

Authors: E. Pavlíčková ¹; J. Pavlíček ^2,3
Authors place of work: Mobilní hospic Ondrášek, Ostrava ¹; Klinika dětského lékařství FN a LF OU Ostrava, Oddělení dětské a prenatální kardiologie ²; Centrum biomedicínského výzkumu FN Hradec Králové ³
Published in the journal: Čes-slov Pediat 2021; 76 (6): 335-343.
Category: Review

Summary

Edwards syndrome is a trisomy syndrome of the 18th chromosome. It is characterized by primordial short stature, typical facial dysmorphia, severe psychomotor retardation and multiple anomalies. High prenatal and postnatal mortality is typical. Despite the unfavorable prognosis, some patients survive one year of life and in rare cases the adulthood is reached. The current level of medical science is able to offer interventions and solutions of morphological pathologies. Additionally, caring for children with this type of genetic disability still has many health and ethical issues. The concept of palliative care is favorable for these patients. The greatest emphasis is placed on the quality of life of the child and family.

Keywords:

Edwards syndrome – facial dysmorphia – multiple anomalies – trisomy

Zdroje

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