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Published on: February 21, 2015
A Unique Genomic Variant of HDR Syndrome in Newborn
Ramesh Vidavalur1, Srisatish Devapatla2
1Cayuga Medical Center, Ithaca and Department of Clinical Pediatrics, Weill Cornell Medical College, New York, USA. Correspondence to: Dr Ramesh Vidavalur, Division of Neonatology, Department of Pediatrics, Cayuga Medical Center, 101 Dates Drive, Ithaca NY 14850. rvidavalur@ yahoo.com.
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.
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