Literature DB >> 3631139

Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis.

F Meire, L Standaert, J J De Laey, L H Zeng.   

Abstract

A patient with Waardenburg syndrome type II associated with Hirschsprung megacolon and Marcus Gunn ptosis is presented. It is suggested that these different anomalies are manifestations of the same neurocrestopathy.

Entities:  

Mesh：

Year:  1987        PMID： 3631139     DOI： 10.1002/ajmg.1320270322

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  9 in total

Review 1.  Hirschsprung's disease as a neurochristopathy.

Authors:  G Martucciello
Journal:  Pediatr Surg Int       Date:  1997       Impact factor: 1.827

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.  Mouse and hamster mutants as models for Waardenburg syndromes in humans.

Authors:  J H Asher; T B Friedman
Journal:  J Med Genet       Date:  1990-10       Impact factor: 6.318

Review 4.  Bilateral Marcus Gunn jaw winking synkinesis with monocular elevation deficiency: a case report and literature review.

Authors:  Akash D Shah; Anand B Kumar; Kulin Kothari
Journal:  Int Ophthalmol       Date:  2012-02-19       Impact factor: 2.031

5.  Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.

Authors:  L A Farrer; K M Grundfast; J Amos; K S Arnos; J H Asher; P Beighton; S R Diehl; J Fex; C Foy; T B Friedman
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

Review 6.  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

7.  Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.

Authors:  G Van Camp; M N Van Thienen; I Handig; B Van Roy; V S Rao; A Milunsky; A P Read; C T Baldwin; L A Farrer; M Bonduelle
Journal:  J Med Genet       Date:  1995-07       Impact factor: 6.318

8.  A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.

Authors:  Eun Young Choi; Wungrak Choi; Christopher Seungkyu Lee
Journal:  BMC Ophthalmol       Date:  2018-10-11       Impact factor: 2.209

9.  Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report.

Authors:  Li Zhang; Yue Wan; Ningli Wang
Journal:  J Med Case Rep       Date:  2022-07-06
  9 in total

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