Evidence map›Paper›PMID 33552637›Full record

ArticleJournal of pediatric genetics2021

Renal Dysplasia and Progressive Renal Failure in a Newborn with Interstitial Chromosome 4 Deletion 4q25-28.3: A New Phenotype?

Cláudia Teles-Silva, Francisca Martins, Sandra Costa, Paulo Soares, Gustavo Rocha, Filipa Flor-de-Lima, Helena Pinto, Carla Ramalho, Renata Oliveira, Otília Brandão and 1 more

Abstract readCase Reports
In one paragraph

Article in Journal of pediatric genetics, 2021. 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

11 authors.

Cláudia Teles-SilvaNeonatology Service, Centro Materno Pediátrico, Centro Hospitalar Universitário São João, Porto, Portugal.
Francisca MartinsNeonatology Service, Centro Materno Pediátrico, Centro Hospitalar Universitário São João, Porto, Portugal.
Sandra CostaNeonatology Service, Centro Materno Pediátrico, Centro Hospitalar Universitário São João, Porto, Portugal.
Paulo SoaresNeonatology Service, Centro Materno Pediátrico, Centro Hospitalar Universitário São João, Porto, Portugal.
Gustavo RochaNeonatology Service, Centro Materno Pediátrico, Centro Hospitalar Universitário São João, Porto, Portugal.
Filipa Flor-de-LimaNeonatology Service, Centro Materno Pediátrico, Centro Hospitalar Universitário São João, Porto, Portugal.
Helena PintoFaculdade de Medicina da Universidade do Porto, Porto, Portugal.
Carla RamalhoFaculdade de Medicina da Universidade do Porto, Porto, Portugal.
Renata OliveiraDepartment of Medical Genetics, Medical Genetics Service, Centro Hospitalar Universitário São João, Porto, Portugal.
Otília BrandãoPathology Department, Centro Hospitalar Universitário São João, Porto, Portugal.
Hercília GuimarãesNeonatology Service, Centro Materno Pediátrico, Centro Hospitalar Universitário São João, Porto, Portugal.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The deletion of the long arm of chromosome 4 is rare, presenting with a variable phenotype depending on the chromosomic area affected. A term newborn with prenatal diagnosis of anhydramnios, dysplastic cystic kidneys, and cardiomegaly was born with generalized subcutaneous edema, several dysmorphic features, and progressive renal failure requiring dialysis. The infant continued to deteriorate and died at 52 days of age. Autopsy confirmed bilateral renal dysplasia with cysts. Array-comparative genomic hybridization (CGH) identified a large deletion on 4q25-q28.3, which is not yet described in association with renal disease. The clinical progression could be expected due to the severity of the perinatal clinical presentation.

Indexed as

chromosome 4q deletioncraniofacial malformationsrenal dysplasia

Identifiers

PMID33552637
PMCPMC7853909

What OpenQuestion holds

Textmetadata
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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.