Literature DB >> 3712396

Possible Waardenburg syndrome with gastrointestinal anomalies.

J Nutman, R Steinherz, Y Sivan, R M Goodman.   

Abstract

We describe a patient with possible Waardenburg syndrome associated with anal atresia and oesophageal atresia with tracheooesophageal fistula. Three other published cases with atretic gastrointestinal anomalies associated with the Waardenburg syndrome are reviewed. We conclude that the association between atretic lesions of the gastrointestinal tract and the Waardenburg syndrome may be a significant one.

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Mesh：

Year:  1986        PMID： 3712396      PMCID： PMC1049577          DOI： 10.1136/jmg.23.2.175

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  6 in total

1.  ESOPHAGEAL ATRESIA AND TRACHEOESOPHAGEAL FISTULA. A SURVEY OF ITS MEMBERS BY THE SURGICAL SECTION OF THE AMERICAN ACADEMY OF PEDIATRICS.

Authors:  T M HOLDER; D T CLOUD; J E LEWIS; G P PILLING
Journal:  Pediatrics       Date:  1964-10       Impact factor: 7.124

2.  Deafness as part of an hereditary syndrome.

Authors:  L FISCH
Journal:  J Laryngol Otol       Date:  1959-06       Impact factor: 1.469

3.  Hirschsprung's disease and Waardenburg's syndrome.

Authors:  D Branski; N R Dennis; J M Neale; L J Brooks
Journal:  Pediatrics       Date:  1979-05       Impact factor: 7.124

4.  [Waardenburg's syndrome. A familial case relating to 4 generations and 23 individuals].

Authors:  C Roux; G Baheux; M Gaulier; R Caldera; L Soepardan
Journal:  Ann Genet       Date:  1970-06

5.  The association of Waardenburg syndrome and Hirschsprung megacolon.

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

6.  Associated malformation with anal and rectal atresiae.

Authors:  W Hasse
Journal:  Prog Pediatr Surg       Date:  1976
  6 in total
  4 in total

1.  Absence of a vagina and right sided adnexa uteri in the Waardenburg syndrome: a possible clue to the embryological defect.

Authors:  R M Goodman; G Oelsner; M Berkenstadt; D Admon
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

2.  Anesthetic problems in a child with Waardenburg's syndrome and Hirschsprung's disease.

Authors:  Akio Mizushima; Ken'ichiro Nitami; Toshihiro Kikuchi; Toyoki Kugimiya; Toshiki Ohya; Takeshi Miyano
Journal:  J Anesth       Date:  1996-06       Impact factor: 2.078

3.  Decrease of parafollicular thyroid C-cells in experimental esophageal atresia: further evidence of a neural crest pathogenic pathway.

Authors:  L Martinez; M De Ceano-Vivas; S Gonzalez-Reyes; F Hernandez; V Fernandez-Dumont; W M Calonge; E Ruiz; J I Rodriguez; J A Tovar
Journal:  Pediatr Surg Int       Date:  2004-11-27       Impact factor: 1.827

4.  Oesophageal and sternohyal muscle fibres are novel Pax3-dependent migratory somite derivatives essential for ingestion.

Authors:  James E N Minchin; Victoria C Williams; Yaniv Hinits; Siewhui Low; Panna Tandon; Chen-Ming Fan; John F Rawls; Simon M Hughes
Journal:  Development       Date:  2013-06-12       Impact factor: 6.868
  4 in total

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