Observational studyBMC pediatrics2022
New insights on Noonan syndrome's clinical phenotype: a single center retrospective study.
Observational study in BMC pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 23 citations in OpenAlex.
- Portraying the full picture of Neurofibromatosis-Noonan syndrome: a systematic review of literature.Journal of medical genetics · 2025Pooled it
- Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome.Frontiers in pediatrics · 2025Pooled it
- Clinical and Genetic Characterization of Noonan Syndrome in a Colombian Pediatric CohortJournal of clinical research in pediatric endocrinology · 2026Observational
- Largely preserved vestibular function despite severe-to-profound hearing loss in Noonan syndrome spectrum disorders.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026Article
- Genetic diagnosis in fetal hydronephrosis: assessment using chromosomal microarray analysis and whole-genome sequencing.Human genomics · 2026Article
- Noonan syndrome spectrum disorders in real life: patient characteristics and response to growth hormone therapy in a genetically defined single-country multicenter cohort.European journal of pediatrics · 2026Article
- Clinical features and management of 16q24.3 microdeletion KBG syndrome: literature review.Frontiers in pediatrics · 2026Article
- Real-World Evidence of Treatment Patterns and Costs of Turner Syndrome and Noonan Syndrome in the USA.Hormone research in paediatrics · 2025Article
- Noonan Syndrome, Cancer Risk, and Growth Hormone TreatmentJournal of clinical research in pediatric endocrinology · 2025Review
- [Van Wyk-Grombach syndrome as a result of late diagnosis of autoimmune thyroiditis (ait) in a patient with chromosome 22 deletion syndrome. Description of the clinical case and a brief review of the literature].Problemy endokrinologii · 2025Review
- Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details onDiagnostics (Basel, Switzerland) · 2025Article
- Noonan syndrome withTranslational pediatrics · 2025Article
- Second Trimester Ultrasound Diagnosis of External Hydrocephalus in Two Fetuses with Noonan Syndrome-Case Report Series.Journal of clinical medicine · 2025Article
- Endoscopic Mitral Surgery in Noonan Syndrome-Case Report and Considerations.Journal of clinical medicine · 2025Article
- Case Report: A rare case of Noonan syndrome with multiple lentigines manifesting as cardiac enlargement.Frontiers in cardiovascular medicine · 2025Article
- KBG syndrome complicated with chylothorax in a newborn: a case report and literature review.Frontiers in pediatrics · 2025Article
- Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype-A Multi-Center Retrospective Study.Genes · 2024Article
- Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up.Translational pediatrics · 2024Article
- Mapping the current status and outlook of research on noonan syndrome over the last 26 years: a bibliometric and visual analysis.Frontiers in genetics · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNoonan syndrome (NS) is a clinically and genetically heterogeneous disorder. Since its clinical phenotype is often mild and difficult to differentiate from other syndromes, its diagnosis can be challenging and its prevalence in the pediatric population is most certainly underestimated. The difficulty in identifying Noonan syndrome is also increased by the fact that genetic tests are currently not able to detect an underlying mutation in around 10% of the cases.
methodsThis is a retrospective, observational study conducted at the Institute for Maternal and Child "Burlo Garofolo" in Trieste, Italy. We recruited all the patients with clinical and/or genetic diagnosis of NS who were evaluated at the Department of Pediatrics between October 2015 and October 2020. Statistical analyses were performed with IBM SPSS Statistics software. The association between discrete variables has been evaluated through chi-squared test, indicating statistically significant p with Pearson test or Fischer test for variables less than 5.
resultsWe recruited a total of 35 patients affected by Noonan syndrome. In 24 patients (75%) we identified an underlying genetic substrate: 17 patients had a mutation on PTPN11 (61%), 2 in SOS1, KRAS and SHOC2 (7% each) and only 1 in RAF1 (4%). 25% of the subjects did not receive a genetic confirm. As for the phenotype of the syndrome, our study identified the presence of some clinical features which were previously unrelated or poorly related to NS. For example, renal and central nervous system abnormalities were found at a higher rate compared to the current literature. On the contrary, some features that are considered very suggestive of NS (such as lymphatic abnormalities and the classical facial features) were not frequently found in our population.
conclusionsIn our analysis, we focused on the main phenotypic features of NS, identifying various clinical manifestation that were not associated with this genetic condition before. This could be helpful in raising the knowledge of NS's clinical spectrum, facilitating its diagnosis.
Indexed as
Identifiers
What OpenQuestion holds
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.