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Megacystis microcolon intestinal hypoperistalsis syndrome

Known as: Berdon syndrome, Megacystis, Microcolon, Intestinal Hypoperistalsis Syndrome, MMIH Syndrome 
A rare syndrome characterized by the presence of an enlarged and weak bladder (megacystis), a very small large intestine (microcolon), and weak small… 
National Institutes of Health

Related topics

Related topics

5 relations

Broader (4)

Colon structure (body structure)Intestinal Pseudo-ObstructionMultiple congenital anomaliesUrinary Bladder
Hereditary Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2017
Highly Cited
2017
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice
Significance Rare recessive monogenic diseases are often found in isolated populations. In one such population, we identified a… 
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Highly Cited
2014
Highly Cited
2014
Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting… 
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Review
2011
Review
2011
Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome
PurposeMegacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare and the most severe form of functional… 
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Highly Cited
2002
Highly Cited
2002
Megacystis-microcolon-intestinal hypoperistalsis syndrome: evidence of intestinal myopathy
Abstract We investigated small- and large-bowel specimens of three newborn infants presenting with the clinical and radiological… 
Highly Cited
2001
Highly Cited
2001
Megacystis-microcolon-intestinal hypoperistalsis syndrome and the absence of the alpha3 nicotinic acetylcholine receptor subunit.
BACKGROUND & AIMS The megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disease of childhood that… 
Highly Cited
1999
Highly Cited
1999
Megacystis, mydriasis, and ion channel defect in mice lacking the alpha3 neuronal nicotinic acetylcholine receptor.
The alpha3 subunit of the neuronal nicotinic acetylcholine receptor is widely expressed in autonomic ganglia and in some parts of… 
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1989
1989
The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition.
We report the cases of two sibs with the megacystis-microcolon-intestinal hypoperistalsis syndrome. The parents are first cousins… 
1986
1986
Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance.
We report two female sibs with the megacystis-microcolon-intestinal hypoperistalsis syndrome. The parents are first cousins… 
Review
1983
Review
1983
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a visceral myopathy.
Two newborn infants with megacystis-microcolon-intestinal hypoperistalsis syndrome are described. Review of the literature… 
Highly Cited
1980
Highly Cited
1980
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a rare cause of intestinal obstruction in the newborn.
Berdon et al. (1976) first described a syndrome comprising intestinal obstruction and microcolon and a giant urinary bladder with… 
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