A Unique Genomic Variant of HDR Syndrome in Newborn

ABSTRACT

Background: HDR syndrome (also known as Barakat syndrome) is a rare genetic disorderdue to deletions/mutations on specific regions of zinc-finger transcription factor (GATA3)gene. Case Characteristics A male preterm infant presented with multiple dysmorphicfeatures characterized by small for gestational age, hypognathia and facial abnormalities.Observation Investigations revealed hypocalcemia and low parathyroid hormone levelsand bilateral sensorineural deafness. Outcome: Chromosomal microarray analysisrevealed a combination of deletion on chromosome 10p (10p15.3p14) with loss of GATA3gene and duplication of chromosome 20p (20p13p12.3) as a result of unbalanced 1020translocation. Message Detecting this syndrome at neonatal age is very important becauseit allows early intervention to minimize future clinical problems.