Literature DB >> 6651333

Waardenburg's syndrome associated with total aganglionosis.

P A Farndon, A Bianchi.   

Abstract

A Pakistani child of consanguineous parents had signs of Waardenburg's syndrome and total intestinal aganglionosis. This association seems to be a distinct clinical entity with an autosomal recessive mode of inheritance.

Entities:  

Mesh：

Year:  1983        PMID： 6651333      PMCID： PMC1628361          DOI： 10.1136/adc.58.11.932

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  5 in total

1.  Studies on megacolon in piebald mice.

Authors:  M BIELSCHOWSKY; G C SCHOFIELD
Journal:  Aust J Exp Biol Med Sci       Date:  1962-10

2.  Intestinal loop lengthening--a technique for increasing small intestinal length.

Authors:  A Bianchi
Journal:  J Pediatr Surg       Date:  1980-04       Impact factor: 2.545

3.  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

4.  The association of Waardenburg syndrome and Hirschsprung megacolon.

Authors:  G S Omenn; V A McKusick
Journal:  Am J Med Genet       Date:  1979

5.  Total intestinal aganglionosis. An autosomal recessive condition?

Authors:  A E MacKinnon; S J Cohen
Journal:  Arch Dis Child       Date:  1977-11       Impact factor: 3.791
  5 in total
  8 in total

1.  Shah Waardenberg syndrome.

Authors:  P R Gupta; S K Chowdhary; K Joshi; R Shukla; K L N Rao
Journal:  Indian J Pediatr       Date:  2002-05       Impact factor: 1.967

2.  Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.

Authors:  H Santos; J Mateus; M J Leal
Journal:  J Med Genet       Date:  1988-03       Impact factor: 6.318

3.  Genetic heterogeneity in Waardenburg's syndrome.

Authors:  M L Kulkarni; M Kurian; G Guruprasad; M S Panchakshariah
Journal:  J Med Genet       Date:  1989-06       Impact factor: 6.318

4.  Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.

Authors:  J A Hurst; M Markiewicz; D Kumar; E M Brett
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

5.  Homozygosity in piebald trait.

Authors:  M A Hultén; M M Honeyman; A J Mayne; M J Tarlow
Journal:  J Med Genet       Date:  1987-09       Impact factor: 6.318

6.  Long segment Hirschsprung's disease in the Waardenburg-Shah syndrome.

Authors:  E J Gnananayagam; R Solomon; A Chandran; S Anbarasi; S Sen; P D Moses
Journal:  Pediatr Surg Int       Date:  2003-06-14       Impact factor: 1.827

Review 7.  Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature.

Authors:  Fumiaki Toki; Norio Suzuki; Ken Inoue; Makoto Suzuki; Kyoko Hirakata; Kyoko Nagai; Minoru Kuroiwa; James R Lupski; Yoshiaki Tsuchida
Journal:  Pediatr Surg Int       Date:  2003-12-23       Impact factor: 1.827

8.  Shah-Waardenburg syndrome.

Authors:  Abdelhalim Mahmoudi; Mohamed Rami; Khalid Khattala; Aziz Elmadi; My Abderrahmane Afifi; Bouabdallah Youssef
Journal:  Pan Afr Med J       Date:  2013-02-12
  8 in total

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