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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 2008-2150
Vol. 20, No. 1, 2010, pp. 123-126
Bioline Code: pe10018
Full paper language: English
Document type: Research Article
Document available free of charge

Iranian Journal of Pediatrics, Vol. 20, No. 1, 2010, pp. 123-126

 en HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease
Sepahi, Mohsen Akhavan; Baraty, Behrouz & Shooshtary, Fatemeh Khalifeh

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.

Keywords
Hirschsprung Disease; Deafness; Sensorineural Hearing Loss; Hypoparathyroidism; HDR Syndrome

 
© © 2010 by Center of Excellence for Pediatrics, Children’s Medical Center, Tehran University of Medical Sciences,All rights reserved.
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