RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164072225
T1 HDR Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164072225
RD 2024/09/08
AB HDR  is  an  acronym  that  stands  for  Hypoparathyroidism,  Deafness,  and  Renal  dysplasia.  It  is  defined  by  the  triad  of  hypoparathyroidism,  renal  dysplasia,  and  hearing  loss.  The  presence  of  Hirschsprung  disease  is  reported.  This  association  suggests  a  DiGeorge-like  Syndrome  characterized  by  hypoparathyroidism,  heart  defects,  immune  deficiency,  deafness,  and  renal  malformations  caused  by  a  haploinsufficiency  of  the  zinc-finger  transcription  factor  GATA3.