Literature DB >> 2918532

The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition.

D G Penman1, R J Lilford.   

Abstract

We report the cases of two sibs with the megacystis-microcolon-intestinal hypoperistalsis syndrome. The parents are first cousins. These cases further support the view that this syndrome is inherited in an autosomal recessive fashion.

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Mesh：

Year:  1989        PMID： 2918532      PMCID： PMC1015544          DOI： 10.1136/jmg.26.1.66

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


  8 in total

1.  Partial trisomy 6p.

Authors:  A Bernheim; R Berger; G Vaugier; J C Thieffry; Y Matet
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

2.  A 6p trisomy detected in a family with a "giant satellite".

Authors:  H Chiyo; Y Kuroki; I Matsui; K Yanagida; Y Nakagome
Journal:  Humangenetik       Date:  1975-10-20

3.  Megacystis-microcolon-intestinal hypoperistalsis syndrome: a rare cause of intestinal obstruction in the newborn.

Authors:  R Patel; H Carty
Journal:  Br J Radiol       Date:  1980-03       Impact factor: 3.039

4.  Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls.

Authors:  W E Berdon; D H Baker; W A Blanc; B Gay; T V Santulli; C Donovan
Journal:  AJR Am J Roentgenol       Date:  1976-05       Impact factor: 3.959

5.  Megacystis, microcolon, intestinal hypoperistalsis syndrome: possible pathogenesis.

Authors:  J Kirtane; V Talwalker; D K Dastur
Journal:  J Pediatr Surg       Date:  1984-04       Impact factor: 2.545

6.  Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance.

Authors:  R M Winter; S A Knowles
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

7.  Megacystis-microcolon-intestinal hypoperistalsis syndrome in a newborn girl whose brother had prune belly syndrome: common pathogenesis?

Authors:  G Oliveira; M I Boechat; M A Ferreira
Journal:  Pediatr Radiol       Date:  1983

8.  Megacystis-microcolon-intestinal hypoperistalsis syndrome: a visceral myopathy.

Authors:  P Puri; B D Lake; F Gorman; B O'Donnell; H H Nixon
Journal:  J Pediatr Surg       Date:  1983-02       Impact factor: 2.545
  8 in total
  6 in total

1.  Prenatal diagnosis of the megacystis-microcolon-intestinal hypoperistalsis syndrome.

Authors:  I D Young; P A McKeever; L A Brown; G D Lang
Journal:  J Med Genet       Date:  1989-06       Impact factor: 6.318

Review 2.  Classification and diagnostic criteria of variants of Hirschsprung's disease.

Authors:  Florian Friedmacher; Prem Puri
Journal:  Pediatr Surg Int       Date:  2013-09       Impact factor: 1.827

Review 3.  Advances in understanding functional variations in the Hirschsprung disease spectrum (variant Hirschsprung disease).

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2016-12-17       Impact factor: 1.827

Review 4.  Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review.

Authors:  Danielle Mc Laughlin; Prem Puri
Journal:  Pediatr Surg Int       Date:  2013-09       Impact factor: 1.827

5.  Cardiac rhabdomyomata and megacystis-microcolon-intestinal hypoperistalsis syndrome.

Authors:  R T Couper; R W Byard; E Cutz; D A Stringer; P R Durie
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

6.  Megacystis-microcolon-intestinal hypoperistalsis syndrome: a case report.

Authors:  Mehmet Melek; Yesim Edirne; Burhan Beger; Mecnun Cetin
Journal:  Gastroenterol Res Pract       Date:  2009-09-24       Impact factor: 2.260
  6 in total

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