ArticleTranslational pediatrics2021
Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature.
Article in Translational pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- European central hypoventilation syndrome consortium description of congenital central hypoventilation syndrome neonatal onset.European journal of pediatrics · 2025Article
- Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature.Molecular genetics & genomic medicine · 2023Review
- Case Report: A novelFrontiers in pediatrics · 2022Article
- Congenital central hypoventilation syndrome: a life-threatening cause of neonatal apnoea.BMJ case reports · 2021Article
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9 authors.
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Abstract
backgroundCongenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant disorder caused by pathogenic variants in paired-like homeobox 2B (
methodsWe made a retrospective analysis of 14 neonates carrying
resultsWe identified a total of 60 neonatal-onset CCHS cases (35 males and 25 females) including 14 novel cases from our local cohort. Nearly 20% (18.2%) of the patients were born prematurely. Nearly half (46.2%) of the patients had abnormal family history. Polyhydramnios was observed in 21.3% (10/47) of the patients. About 90% of the patients manifested symptoms of hypoventilation in the first week of life. Fourteen patients (23.3%) were classified as mild-CCHS and the rest were severe-CCHS. Gastrointestinal manifestations were observed in 71.7% of the patients. Approximately twofold more males than females were affected by Hirschprung disease (HSCR)/variant HSCR (75.8%
conclusionsThis report provides a large cohort of neonatal-onset CCHS cases. The results indicate that severe hypoventilation and HSCR are frequently observed in this group. NPARMs accounted for half of the cohort with some genotypes tend to be associated with mild phenotype. Molecular testing in neonates with suspicion of CCHS and genetic counseling for CCHS families are highly recommended.
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