Literature DB >> 12061683

Shah Waardenberg syndrome.

P R Gupta1, S K Chowdhary, K Joshi, R Shukla, K L N Rao.   

Abstract

Intermittent or partial small bowel obstruction in a neonate may be a rare presentation of total aganglionosis. The presence of partial albinism and white forelock should alert the clinician to the possibility of associated Hirschsprung disease as a cause of bowel symptoms. Such a rare association has been called Shah Waardenberg syndrome and is being reported.

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Mesh：

Year:  2002        PMID： 12061683     DOI： 10.1007/bf02722641

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  9 in total

Review 1.  Waardenburg syndrome.

Authors:  A P Read; V E Newton
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.

Authors:  T Attié; M Till; A Pelet; J Amiel; P Edery; L Boutrand; A Munnich; S Lyonnet
Journal:  Hum Mol Genet       Date:  1995-12       Impact factor: 6.150

3.  SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

Authors:  V Pingault; N Bondurand; K Kuhlbrodt; D E Goerich; M O Préhu; A Puliti; B Herbarth; I Hermans-Borgmeyer; E Legius; G Matthijs; J Amiel; S Lyonnet; I Ceccherini; G Romeo; J C Smith; A P Read; M Wegner; M Goossens
Journal:  Nat Genet       Date:  1998-02       Impact factor: 38.330

4.  A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?

Authors:  V Pingault; N Bondurand; N Lemort; M Sancandi; I Ceccherini; J P Hugot; P S Jouk; M Goossens
Journal:  J Med Genet       Date:  2001-03       Impact factor: 6.318

5.  Congenital deafness and Hirschsprung's disease.

Authors:  V A McKusick
Journal:  N Engl J Med       Date:  1973-03-29       Impact factor: 91.245

6.  A case of Waardenburg's syndrome.

Authors:  H B Pryor
Journal:  Am J Dis Child       Date:  1971-08

7.  Waardenburg's syndrome associated with total aganglionosis.

Authors:  P A Farndon; A Bianchi
Journal:  Arch Dis Child       Date:  1983-11       Impact factor: 3.791

8.  White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome.

Authors:  K N Shah; S J Dalal; M P Desai; P N Sheth; N C Joshi; L M Ambani
Journal:  J Pediatr       Date:  1981-09       Impact factor: 4.406

9.  A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).

Authors:  R M Hofstra; J Osinga; G Tan-Sindhunata; Y Wu; E J Kamsteeg; R P Stulp; C van Ravenswaaij-Arts; D Majoor-Krakauer; M Angrist; A Chakravarti; C Meijers; C H Buys
Journal:  Nat Genet       Date:  1996-04       Impact factor: 38.330
  9 in total

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