ea0026p649 | Clinical case reports | ECE2011
Stefanopoulos D
, Kostoglou-Athanassiou I
, Vassiliou G.
, Tzioras K
, Vryonidou A
, Karfi A
HDR syndrome (hypoparathyroidism, deafness, renal dysplasia syndrome) is a rare clinical entity, which includes the simultaneous presence of hypoparathyroidism, sensorineural deafness and renal dysplasia. It is due to mutations of GATA3 gene in XP.10p and is inherited with the autosomal dominant type.The aim was to describe the case of a patient with clinical symptoms and laboratory and imaging findings compatible with HDR or Barakat syndrome.<p clas...