Observational studyEuropean journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie2024
Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation.
Observational study in European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05443113 (Early Onset Pectus Excavatum is More Likely to be Part of a Genetic Defect), which is not on this map. Cited by 5 papers.
What it found
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Early Onset Pectus Excavatum is More Likely to be Part of a Genetic Defect
Who cites it
5 citing papers in PubMed.
- Congenital Chest Wall Deformities in Children: A Narrative Review.Children (Basel, Switzerland) · 2026Review
- Genetic Associations with Pectus Excavatum: A Systematic Review.Current issues in molecular biology · 2026Review
- A Scoping Review on Genetic Mutations and Single-Nucleotide Polymorphisms Associated with Pectus Excavatum.Journal of multidisciplinary healthcare · 2026Review
- To screen or not to screen: the importance of early detection of pectus excavatum.Translational pediatrics · 2025Article
- Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPotential underlying genetic variations of pectus excavatum (PE) are quite rare. Only one-fifth of PE cases are identified in the first decade of life and thus are of congenital origin. The objective of this study is to test if early-onset PE is more likely to be part of genetic variations than PE that becomes apparent during puberty or adolescence. MATERIALS AND
methodsChildren younger than 11 years who presented with PE to the outpatient clinic of the Department of Pediatric Surgery at our center between 2014 and 2020 were screened by two clinical geneticists separately. Molecular analysis was performed based on the differential diagnosis. Data of all young PE patients who already had been referred for genetic counseling were analyzed retrospectively.
resultsPathogenic genetic variations were found in 8 of the 18 participants (44%): 3 syndromic disorders (Catel-Manzke syndrome and two Noonan syndromes), 3 chromosomal disorders (16p13.11 microduplication syndrome, 22q11.21 microduplication syndrome, and genetic gain at 1q44), 1 connective tissue disease (Loeys-Dietz syndrome), and 1 neuromuscular disorder (pathogenic variation in
conclusionEarly-onset PE is more likely to be part of genetic variations than PE that becomes apparent during puberty or adolescence. Referral for genetic counseling should therefore be considered.
trial registrationNCT05443113.
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