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Hdr Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease



Sepahi MA1 ; Baraty B2 ; Shooshtary FK2
Authors
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Authors Affiliations
  1. 1. Clinical Research Development Center, Qom University of Medical Sciences, Qom, IR, Iran
  2. 2. Isfahan University of Medical Sciences, Isfahan, IR, Iran

Source: Iranian Journal of Pediatrics Published:2010

Abstract

Background: HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) is an autosomal dominant condition, defined by the triad hypoparathyroidism, renal dysplasia and hearing loss. Hirschsprung (HSCR) disease is a variable congenital absence of ganglion cells of the enteric nervous system resulting in degrees of functional bowel obstruction. Rarer chromosomal anomalies are reported in combination with Hirschsprung disease like DiGeorge syndrome, mosaic trisomy 8, XXY chromosomal constitution, partial duplication of chromosome 2q, tetrasomy 9p, and 20p deletion. Case Presentation: Here, we describe an 8 year-old girl with HDR syndrome accompanied by Hirschsprung disease. Although the association of Hirschsprung disease with chromosomal anomalies has been reported, according to our knowledge, this is the first report of associated HSCR with HDR syndrome. Conclusion: The association of HSCR with HDR syndrome has not been reported in previous studies. This association should be evaluated genetically to assess chromosomal relationships. © 2010 by Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, All rights reserved.
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