SynthesisPediatric surgery international2013
Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review.
Synthesis in Pediatric surgery international, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- Consanguinity and its relevance for the incidence of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): systematic review.Pediatric surgery international · 2019Pooled it
- Genotype-phenotype correlation and management of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: a descriptive cohort study.Orphanet journal of rare diseases · 2025Article
- Modified Martin Procedure for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS).Indian journal of pediatrics · 2025Article
- Article
- Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: A Case Series With Long-term Follow-up and Prolonged Survival.Journal of pediatric gastroenterology and nutrition · 2021Article
- Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with cystic fibrosis and meconium peritonitis in a female neonate 4 days of age - case report and review of the literature.Medicine and pharmacy reports · 2020Article
- Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family.Journal of human genetics · 2019Article
- Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT).Prenatal diagnosis · 2019Review
- Ultrasound prenatal diagnosis of typical megacystis, microcolon, intestinal hypoperistalsis syndrome.Clinical case reports · 2018Article
- Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome.European journal of human genetics : EJHG · 2018Article
- Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.American journal of medical genetics. Part A · 2016Review
- Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.European journal of human genetics : EJHG · 2016Article
- A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.European journal of human genetics : EJHG · 2015Article
- De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.Human genetics · 2014Article
- Abdominal radiograph with intravesical air and possible small bowel atresia.The Journal of pediatrics · 2014Article
- Classification and diagnostic criteria of variants of Hirschsprung's disease.Pediatric surgery international · 2013Review
- Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS): A Rarity.Journal of neonatal surgeryArticle
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMegacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare and severe disorder of functional obstruction affecting bladder and bowel, usually diagnosed in the neonatal period. Over 230 cases have been reported since Berdon and colleagues first described this clinical entity in 1976. The exact pathogenesis of MMIHS is unknown. Familial occurrence of MMIHS has been reported and could offer insight into the aetiology of this disease. The purpose of this study was to systematically review the published literature for the evidence of familial MMIHS and to characterise these presentations.
methodsA literature search was performed using the keywords "megacystis microcolon intestinal hypoperistalsis" (1976-2013). Retrieved articles, including additional studies from reference lists, were reviewed for consanguinity between parents and recurrence of MMIHS between siblings. Data were extracted for cases where familial MMIHS was present.
resultsA total of 47 patients were reported in which familial MMIHS was likely or confirmed. 15 sibling sets were definitively diagnosed with MMIHS (14 pairs and one set of three siblings). Four further index patients with a confirmed diagnosis and also one of the sibling pairs were reported to have a sibling in which MMIHS was probable. Consanguinity between parents was present in four of the confirmed sibling sets and in an additional seven individual cases. The outcome for familial MMIHS is generally poor. Multiple sibling fatalities were frequent and in only one family were both siblings' survivors at the time of reporting.
conclusionConsanguinity between parents and recurrence in siblings indicate that MMIHS is inherited in an autosomal recessive manner. With the advent of next generation sequencing, these familial clusters may be key to determining the genetic basis for MMIHS.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.