ReviewArchives of disease in childhood1998
Congenital central hypoventilation syndrome and Hirschsprung's disease.
Review in Archives of disease in childhood, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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.
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Who cites it
24 citing papers in PubMed.
- Colostomy Delays Cell Loss in the Brain and Improves Juvenile Survival in a Neonatal Rat Model of Hirschsprung's Disease.Oxidative medicine and cellular longevity · 2022Article
- Brain size reductions associated with endothelin B receptor mutation, a cause of Hirschsprung's disease.BMC neuroscience · 2021Article
- Hirschsprung disease and other gastrointestinal motility disorders in patients with CCHS.European journal of pediatrics · 2021Article
- Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.American journal of medical genetics. Part A · 2018Article
- Targeting RET-driven cancers: lessons from evolving preclinical and clinical landscapes.Nature reviews. Clinical oncology · 2018Review
- Retinoblastoma and Neuroblastoma Predisposition and Surveillance.Clinical cancer research : an official journal of the American Association for Cancer Research · 2017Review
- Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series.Journal of medical case reports · 2013Article
- Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.Pediatric surgery international · 2012Review
- Hirschsprung's disease and the brain.Pediatric surgery international · 2011Review
- Haddad syndrome with PHOX2B gene mutation in a Korean infant.Journal of Korean medical science · 2011Article
- The intrinsic innervation of the lung is derived from neural crest cells as shown by optical projection tomography in Wnt1-Cre;YFP reporter mice.Journal of anatomy · 2010Article
- Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation.Respiratory physiology & neurobiology · 2010Review
- Obstructive sleep apnea syndrome: from phenotype to genetic basis.Current genomics · 2009Article
- Deficiency in endothelin receptor B reduces proliferation of neuronal progenitors and increases apoptosis in postnatal rat cerebellum.Cellular and molecular neurobiology · 2008Article
- Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.Journal of human genetics · 2008Article
- Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus.Journal of medical genetics · 2006Article
- The contribution of associated congenital anomalies in understanding Hirschsprung's disease.Pediatric surgery international · 2006Review
- Article
- PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.American journal of human genetics · 2005Article
- Pbx3 deficiency results in central hypoventilation.The American journal of pathology · 2004Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Five cases of the Hirschsprung's disease-congenital central hypoventilation syndrome (CCHS) association are presented and 41 other published cases reviewed. These children have a distinct pattern of associated features, an equal sex incidence, and a characteristic spectrum of disease severity which suggests that the condition is genetically distinct from other cases of Hirschsprung's disease. While approximately 1.5% of Hirschsprung's disease patients, and 10% of those with total colonic aganglionosis, will have CCHS, up to 50% of CCHS patients will have Hirschsprung's disease. Approximately 20% of CCHS/Hirschsprung patients will also have neuroblastoma or ganglioneuroma, usually multiple. Abnormalities of the eye and autonomic nervous system are also common. The ventilatory abnormality is usually evident on the first day of life. The aganglionosis is also severe, with more than half (59%) of the patients having aganglionosis extending into the small bowel.
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Registered trials
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.