Neonatal manifestation of 22q11.2 deletion syndrome - four case reports and a mini-literature review

This report describes four cases of newborns with 22q11.2 syndrome, presenting with a variety of clinical findings typical for this genetic disorder. The patients present symptoms ranging from mild to life-threatening conditions. The severity of the congenital heart defect determines the survival rate in infancy. Each needs of each patient must be tailored to his or her specific medical problems. A holistic approach, addressing medical and behavioural needs, can be very helpful.PMID:38153084 | DOI:10.26444/aaem/165981

Source: Annals of Agricultural and Environmental Medicine : AAEM - December 28, 2023 Category: Environmental Health Authors: Monika W ójtowicz-Marzec Barbara Wysoki ńska Andrzej Wysoki ński Source Type: research