Evidence map›Paper›PMID 30842651›Full record

ReviewNature reviews. Endocrinology2019

Overgrowth syndromes - clinical and molecular aspects and tumour risk.

Frédéric Brioude, Annick Toutain, Eloise Giabicani, Edouard Cottereau, Valérie Cormier-Daire, Irene Netchine

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Endocrinology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.

0numbers the graph read from it
0cells of the map it votes in
45citing papers in PubMed
9.7field-weighted citation impact, top 2% of its field
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

45 citing papers in PubMed, 105 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Clinical Observation of a Rare Binder Phenotype With Fetal Overgrowth Due to aMaternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2025
    Article
  5. Article
  6. Review
  7. Hepatoblastoma.Nature reviews. Disease primers · 2025
    Review
  8. Article
  9. Review
  10. Review
  11. Article
  12. Article
  13. Macrodactyly.Children (Basel, Switzerland) · 2024
    Review
  14. Macrocephaly and Finger Changes: A Narrative Review.International journal of molecular sciences · 2024
    Review
  15. Article
  16. Article
  17. Review
  18. Article
  19. Review
  20. Imprinted Long Non-Coding RNAs in Mammalian Development and Disease.International journal of molecular sciences · 2023
    Review
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

6 authors at 4 institutions in 1 country.

Frédéric BrioudeSorbonne Université, INSERM UMR_S938, Centre de Recherche Saint Antoine, AP-HP Hôpital Trousseau, Paris, France. frederic.brioude@aphp.fr.ORCID http://orcid.org/0000-0001-8122-760X
Annick ToutainCHU de Tours, Hôpital Bretonneau, Service de Génétique, INSERM UMR1253, iBrain, Université de Tours, Faculté de Médecine, Tours, France.ORCID http://orcid.org/0000-0002-5999-5300
Eloise GiabicaniSorbonne Université, INSERM UMR_S938, Centre de Recherche Saint Antoine, AP-HP Hôpital Trousseau, Paris, France.
Edouard CottereauCHU de Tours, Hôpital Bretonneau, Service de Génétique, Tours, France.
Valérie Cormier-DaireService de génétique clinique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.
Irene NetchineSorbonne Université, INSERM UMR_S938, Centre de Recherche Saint Antoine, AP-HP Hôpital Trousseau, Paris, France.
Inserm · FRCentre Hospitalier Universitaire de Tours · FRHôpital Necker-Enfants Malades · FRUniversité de Tours · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Overgrowth syndromes are a heterogeneous group of rare disorders characterized by generalized or segmental excessive growth commonly associated with additional features, such as visceromegaly, macrocephaly and a large range of various symptoms. These syndromes are caused by either genetic or epigenetic anomalies affecting factors involved in cell proliferation and/or the regulation of epigenetic markers. Some of these conditions are associated with neurological anomalies, such as cognitive impairment or autism. Overgrowth syndromes are frequently associated with an increased risk of cancer (embryonic tumours during infancy or carcinomas during adulthood), but with a highly variable prevalence. Given this risk, syndrome-specific tumour screening protocols have recently been established for some of these conditions. Certain specific clinical traits make it possible to discriminate between different syndromes and orient molecular explorations to determine which molecular tests to conduct, despite the syndromes having overlapping clinical features. Recent advances in molecular techniques using next-generation sequencing approaches have increased the number of patients with an identified molecular defect (especially patients with segmental overgrowth). This Review discusses the clinical and molecular diagnosis, tumour risk and recommendations for tumour screening for the most prevalent generalized and segmental overgrowth syndromes.

Indexed as

Arrhythmias, CardiacFemaleGenetic Diseases, X-LinkedGigantismHeart Defects, CongenitalHumansIntellectual DisabilityMegalencephalyNeoplasmsPregnancyRisk FactorsSotos SyndromeSyndrome

Identifiers

PMID30842651
OpenAlexW2918313080

What OpenQuestion holds

Textmetadata
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 OpenQuestion graph.