Managing a newborn with di george syndrome

Poonam Joshi and Dabas H

DiGeorge syndrome (DGS) is a chromosomal disorder having autosomal dominant inheritance, seen in newborns, which occurs due to microdeletion of chromosome 22q11.2, and less commonly 10p13. It is characterized by neonatal hypocalcemia which may present as tetany or seizures, due to hypoplasia of the parathyroid glands and susceptibility to infection due to a deficit of T cells. Newborn may have variety of cardiac malformations in particular those affecting the outflow tract along with learning disorders and developmental delay affect 70%-90% of children in later life.[1]1 A clinical approach to a baby with Di George is discussed in this article.

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