Literature DB >> 3746839

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

R M Winter, S A Knowles.   

Abstract

We report two female sibs with the megacystis-microcolon-intestinal hypoperistalsis syndrome. The parents are first cousins. These cases, together with three other published reports of affected sibs, confirm the autosomal recessive inheritance of the syndrome.

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Year:  1986        PMID： 3746839      PMCID： PMC1049706          DOI： 10.1136/jmg.23.4.360

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


  17 in total

1.  Megacystis-microcolon-intestinal hypoperistalsis syndrome: antenatal ultrasound appearance.

Authors:  W C Vezina; F R Morin; F Winsberg
Journal:  AJR Am J Roentgenol       Date:  1979-10       Impact factor: 3.959

2.  Megacystis-microcolon-intestinal hypoperistalsis syndrome.

Authors:  T E Wiswell; J S Rawlings; J L Wilson; G Pettett
Journal:  Pediatrics       Date:  1979-05       Impact factor: 7.124

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 cause of intestinal obstruction in the newborn period.

Authors:  R A Amoury; R A Fellows; C D Goodwin; R T Hall; T M Holder; K W Ashcraft
Journal:  J Pediatr Surg       Date:  1977-12       Impact factor: 2.545

5.  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

6.  Megacystis-microcolon-intestinal hypoperistalsis syndrome in a male infant.

Authors:  P M Krook
Journal:  Radiology       Date:  1980-09       Impact factor: 11.105

7.  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

8.  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

9.  Urethral obstruction malformation complex: a cause of abdominal muscle deficiency and the "prune belly".

Authors:  R A Pagon; D W Smith; T H Shepard
Journal:  J Pediatr       Date:  1979-06       Impact factor: 4.406

10.  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
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  10 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

2.  Perinatal mortality in different ethnic groups.

Authors:  L S Chitty; R M Winter
Journal:  Arch Dis Child       Date:  1989-07       Impact factor: 3.791

3.  Apple peel syndrome in sibs.

Authors:  T I Farag; A S Teebi
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

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

Authors:  D G Penman; R J Lilford
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

Review 5.  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

6.  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

Review 7.  Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome.

Authors:  Marianne M Ballisty; Kiery A Braithwaite; Bahig M Shehata; Paula N Dickson
Journal:  Pediatr Radiol       Date:  2012-08-29

8.  Antenatal diagnosis of renal tract anomalies by ultrasound.

Authors:  A Reuss; J W Wladimiroff; M F Niermeijer
Journal:  Pediatr Nephrol       Date:  1987-07       Impact factor: 3.714

9.  Intrauterine death in megacystis-microcolon-intestinal hypoperistalsis syndrome.

Authors:  S A Farrell
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

10.  Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

Authors:  Michael F Wangler; Claudia Gonzaga-Jauregui; Tomasz Gambin; Samantha Penney; Timothy Moss; Atul Chopra; Frank J Probst; Fan Xia; Yaping Yang; Steven Werlin; Ieva Eglite; Liene Kornejeva; Carlos A Bacino; Dustin Baldridge; Jeff Neul; Efrat Lev Lehman; Austin Larson; Joke Beuten; Donna M Muzny; Shalini Jhangiani; Richard A Gibbs; James R Lupski; Arthur Beaudet
Journal:  PLoS Genet       Date:  2014-03-27       Impact factor: 5.917
  10 in total

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