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Megacystis microcolon intestinal hypoperistalsis syndrome
Known as:
Berdon syndrome
, Megacystis, Microcolon, Intestinal Hypoperistalsis Syndrome
, MMIH Syndrome
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A rare syndrome characterized by the presence of an enlarged and weak bladder (megacystis), a very small large intestine (microcolon), and weak small…
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National Institutes of Health
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Related topics
Related topics
5 relations
Broader (4)
Colon structure (body structure)
Intestinal Pseudo-Obstruction
Multiple congenital anomalies
Urinary 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
Danny Halim
,
Michael P. Wilson
,
+22 authors
J. Miano
Proceedings of the National Academy of Sciences
2017
Corpus ID: 3837035
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
Michael F. Wangler
,
C. Gonzaga‐Jauregui
,
+20 authors
A. Beaudet
PLoS Genetics
2014
Corpus ID: 9398345
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
J. Gosemann
,
P. Puri
Pediatric surgery international (Print)
2011
Corpus ID: 27499683
PurposeMegacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare and the most severe form of functional…
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Review
2006
Review
2006
Megacystis‐Microcolon‐Intestinal Hypoperistalsis Syndrome
N. Hidaka
,
K. Kawamata
,
Y. Chiba
Journal of ultrasound in medicine
2006
Corpus ID: 856052
Objective. The purpose of this report is to describe the in utero sonographic appearance of megacystis‐microcolon‐intestinal…
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Highly Cited
2002
Highly Cited
2002
Megacystis-microcolon-intestinal hypoperistalsis syndrome: evidence of intestinal myopathy
U. Rolle
,
S. O’briain
,
R. Pearl
,
P. Puri
Pediatric surgery international (Print)
2002
Corpus ID: 23417479
Abstract We investigated small- and large-bowel specimens of three newborn infants presenting with the clinical and radiological…
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Highly Cited
2001
Highly Cited
2001
Megacystis-microcolon-intestinal hypoperistalsis syndrome and the absence of the alpha3 nicotinic acetylcholine receptor subunit.
C. Richardson
,
J. Morgan
,
+7 authors
V. Smith
Gastroenterology
2001
Corpus ID: 23539043
BACKGROUND & AIMS The megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disease of childhood that…
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Highly Cited
1999
Highly Cited
1999
Megacystis, mydriasis, and ion channel defect in mice lacking the alpha3 neuronal nicotinic acetylcholine receptor.
W. Xu
,
S. Gelber
,
+7 authors
A. Beaudet
Proceedings of the National Academy of Sciences…
1999
Corpus ID: 10813020
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.
D. Penman
,
R. Lilford
Journal of Medical Genetics
1989
Corpus ID: 29225208
We report the cases of two sibs with the megacystis-microcolon-intestinal hypoperistalsis syndrome. The parents are first cousins…
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1986
1986
Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance.
R. Winter
,
S. Knowles
Journal of Medical Genetics
1986
Corpus ID: 8572853
We report two female sibs with the megacystis-microcolon-intestinal hypoperistalsis syndrome. The parents are first cousins…
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Highly Cited
1980
Highly Cited
1980
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a rare cause of intestinal obstruction in the newborn.
R. Patel
,
H. Carty
British Journal of Radiology
1980
Corpus ID: 27375318
Berdon et al. (1976) first described a syndrome comprising intestinal obstruction and microcolon and a giant urinary bladder with…
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