Evidence map›Paper›PMID 40673520›Full record

ReviewClinical genetics2025

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology.

Fiona Leduc, Clémence Vanlerberghe, Fabienne Escande, Perrine Brunelle, Florence Petit, Anne Dieux

Abstract readReview
In one paragraph

Review in Clinical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. 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.

Fiona LeducCHU Lille, Université de Lille, Clinique de génétique 'Guy Fontaine', ULR7364 RADEME, Lille, France.
Clémence VanlerbergheCHU Lille, Université de Lille, Clinique de génétique 'Guy Fontaine', ULR7364 RADEME, Lille, France.
Fabienne EscandeCHU Lille, Université de Lille, Biochimie et Biologie Moléculaire, ULR7364 RADEME, Lille, France.
Perrine BrunelleCHU Lille, Université de Lille, Institut de Génétique Médicale, ULR7364 RADEME, Lille, France.
Florence PetitCHU Lille, Université de Lille, Clinique de génétique 'Guy Fontaine', ULR7364 RADEME, Lille, France.
Anne DieuxCHU Lille, Université de Lille, Clinique de génétique 'Guy Fontaine', ULR7364 RADEME, Lille, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Humeroradial synostosis (HRS) is a rare congenital limb malformation, characterised by fusion of the humeral and radial bones, leading to functional disability of the elbow joint. HRS may be reported in familial or sporadic cases and observed either isolated or as part of a syndromic condition. According to an extensive review of the literature, a dozen known conditions may comprise an HRS. The present review aims to propose an updated classification based on molecular pathways (chondrogenesis and osteogenesis; limb development and patterning; genome regulation), combined with a concise overview of the conditions associated with HRS. This knowledge could guide molecular analyses, patient management and genetic counselling. As some cases remain unexplained, further genetic and epidemiological studies are required to evaluate the contribution of genetic and environmental factors in HRS physiopathology.

Indexed as

Genetic Predisposition to DiseaseHumerusRadiusSynostosisDiagnosis, DifferentialHumansAntley–Bixler syndromeCYP26B1DONSONhumeroradial synostosismultiple synostoses syndromeradiohumeral synostosisRBM8AWNT7A

Identifiers

PMID40673520
PMCPMC12405067

What OpenQuestion holds

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LicenceCC BY
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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.