Evidence map›Paper›PMID 41300558›Full record

ReviewChildren (Basel, Switzerland)2025

Non-Classic Cornelia de Lange Syndrome Due to

Fortunato Lonardo, Mariateresa Falco, Claudia Costabile, Paolo Fontana

Abstract readReview
In one paragraph

Review in Children (Basel, Switzerland), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

4 authors.

Fortunato LonardoMedical Genetics Unit, P.O. Gaetano Rummo, A.O.R.N. San Pio, 82100 Benevento, Italy.ORCID 0000-0002-5712-0754
Mariateresa FalcoMedical Genetics Unit, P.O. Gaetano Rummo, A.O.R.N. San Pio, 82100 Benevento, Italy.ORCID 0000-0003-3214-6437
Claudia CostabileAOU "L. Vanvitelli", Dipartimento di Salute Mentale e Fisica e Medicina Preventiva, Servizio di Audiologia e Foniatria, 80138 Napoli, Italy.
Paolo FontanaMedical Genetics Unit, P.O. Gaetano Rummo, A.O.R.N. San Pio, 82100 Benevento, Italy.ORCID 0000-0002-4217-184X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterised by distinctive facial features, growth retardation, limb abnormalities and developmental delays. It is characterised by genetic heterogeneity and also presents a broad clinical variability, with a spectrum of manifestations ranging from mild to severe, with milder phenotypes that can be difficult to ascertain based on physical characteristics. Pathogenic variations in the

Indexed as

BRD4CDLS6cohesin complexCornelia de Lange Syndromeepilepsygastro-oesophageal refluxgrowth delayintellectual disabilitylimb abnormalitiespsychiatric disorder

Identifiers

PMID41300558
PMCPMC12650802

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.