Digeorge Syndrome in a Neonate

Abstract

Di George Syndrome is an autosomal dominant disorder with a prevalence rate of 1 in 4000 live birth [1,2]. The most common chromosomal abnormality associated is the microdeletion of chromosome 22q11.2, followed by 10p13 [3]. The primary immunodeficiency is associated with abnormal facial appearance, congenital heart defects, hypoparathyroidism with hypocalcemia. Facial features include hypertelorism, micrognathia, antimongoloid slant and short philtrum [4]. However; not all patients have typical facial appearance and diagnosis may get delayed for many years till the patient present with clinical symptoms [5].