Evidence map›Paper›PMID 40289159›Full record

ReviewOrphanet journal of rare diseases2025

Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review.

Didier Bessis, Dominique Vidaud, Pierre Meyer, Laurence Pacot, de La Villeon G, Adeline Alice Bonnard, Yline Capri, Christine Coubes, Fanchon Herman, Didier Lacombe and 8 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors.

Didier BessisDepartment of Dermatology and Reference Center for Rare Skin Diseases, Filière Maladies Rares Dermatologiques (FIMARAD), MAGEC-Sud Montpellier, Saint-Eloi Hospital and Univ Montpellier, Montpellier, France. didierbessis@gmail.com.ORCID http://orcid.org/0000-0002-3815-5417
Dominique VidaudFédération de Génétique et Médecine Génomique, Hôpital Cochin, DMU BioPhyGen, AP-HP, Centre-Université Paris Cité, Paris, France.
Pierre MeyerDepartment of Pediatric Neurology, Gui de Chauliac Hospital and Univ Montpellier, Montpellier, France.ORCID https://orcid.org/0000-0001-5710-7376
Laurence PacotFédération de Génétique et Médecine Génomique, Hôpital Cochin, DMU BioPhyGen, AP-HP, Centre-Université Paris Cité, Paris, France.ORCID http://orcid.org/0000-0001-7969-0558
de La Villeon GDepartment of Pediatric and Congenital Cardiology, M3C Regional Reference Center, Univ Montpellier, Montpellier, France.
Adeline Alice BonnardDepartment of Genetic Biochemistry, Robert-Debré Hospital, AP-HP and University of Paris-Diderot, Paris, France.
Yline CapriDepartment of Clinical Genetics and Reference Center, Reference Center for Developmental Anomalies and Malformative Syndromes- Île de France, Robert-Debré Hospital, AP-HP and University of Paris-Diderot, Paris, France.ORCID https://orcid.org/0000-0002-6269-5966
Christine CoubesDepartment of Clinical Genetics, Arnaud de Villeneuve Hospital, and Univ Montpellier, Montpellier, France.
Fanchon HermanDepartment of Medical Information, Epidemiological and Clinical Research Unit, La Colombière Hospital, University of Montpellier, Montpellier, France.ORCID http://orcid.org/0009-0000-8358-5320
Didier LacombeDepartment of Clinical Genetics, Pellegrin University Hospital of Bordeaux, AP-HP, Paris, France.ORCID http://orcid.org/0000-0002-8956-2207
Nicolas MolinariDepartment of Medical Information, Epidemiological and Clinical Research Unit, La Colombière Hospital, University of Montpellier, Montpellier, France.ORCID http://orcid.org/0000-0002-1786-0088
Laura PoujadeDepartment of Dermatology and Reference Center for Rare Skin Diseases, Filière Maladies Rares Dermatologiques (FIMARAD), MAGEC-Sud Montpellier, Saint-Eloi Hospital and Univ Montpellier, Montpellier, France.
Agathe RoubertieDepartment of Pediatric Neurology, Gui de Chauliac Hospital and Univ Montpellier, Montpellier, France.
Julien Van GilsDepartment of Clinical Genetics, Pellegrin University Hospital of Bordeaux, AP-HP, Paris, France.ORCID http://orcid.org/0000-0003-1497-9363
Alain VerloesDepartment of Clinical Genetics and Reference Center, Reference Center for Developmental Anomalies and Malformative Syndromes- Île de France, Robert-Debré Hospital, AP-HP and University of Paris-Diderot, Paris, France.
David GenevièveDepartment of Clinical Genetics, Arnaud de Villeneuve Hospital, and Univ Montpellier, Montpellier, France.ORCID http://orcid.org/0000-0001-6928-6287
Hélène CavéDepartment of Genetic Biochemistry, Robert-Debré Hospital, AP-HP and University of Paris-Diderot, Paris, France.ORCID http://orcid.org/0000-0003-2840-1511
Marjolaine WillemsDepartment of Clinical Genetics, Arnaud de Villeneuve Hospital, and Univ Montpellier, Montpellier, France.ORCID http://orcid.org/0000-0002-2959-0935

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundData on clinical manifestations of neurofibromatosis-Noonan syndrome (NF-NS) remain heterogeneous, with limited validated descriptions.

methodsThis study aims to better define the clinical and molecular features of NF-NS and compare them with existing literature. Secondary objectives include evaluating inter-rater diagnostic agreement among experienced clinicians and assessing the utility of deep-learning algorithms (Face2Gene

resultsTwenty-six patients were enrolled. NSLFP was categorized as 'suggestive' in 69% of cases and 'typical' in 31%. The presence of at least two facial abnormalities (e.g., low-set ears, downslanted palpebral fissures, hypertelorism, and ptosis) was consistently observed in 'typical' cases. Inter-rater concordance was substantial (0.65 [95% CI = 0.56; 0.74]), while concordance between clinicians and F2G was almost perfect at (0.821 [CI 95% = 0.625; 1.000]). Missense NF1 PVs were observed in 38.5% of cases. Apart from NSLP and a high frequency of pectus excavatum (62.5%), no significant differences in anthropometric, dermatological, neurological, skeletal, or ocular clinical features were observed between NF-NS and 'classic' NF1. CHM were found in 19.2% of NF-NS patients, with pulmonic stenosis present in 7.7%.

conclusionNF-NS is a distinct phenotypic variant of NF1, marked by NSLP with consistent facial features -, and frequent pectus excavatum. F2G demonstrated high diagnostic concordance, reinforcing its clinical utility. Given the elevated risk of CHM, especially pulmonic stenosis, proactive cardiovascular assessment similar to other RASopathies is recommended for NS-NF patients, regardless of NF1 PV type.

Indexed as

Noonan SyndromeAdolescentAdultChildChild, PreschoolFemaleHeart Defects, CongenitalHumansMaleMiddle AgedNeurofibromatosis 1PhenotypeProspective StudiesYoung AdultCardiovascular malformationNeurofibromatosis type 1NF1Noonan syndromeRASopathies

Identifiers

PMID40289159
PMCPMC12036184

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 Socratic graph.