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