Evidence map›Paper›PMID 36093452›Full record

ArticleClinical case reports2022

Fontaine progeroid syndrome-A case report.

Sinéad Lally, Nicola Walsh, Janna Kenny, Orla Franklin, Melanie Cotter, Sarah Richardson, Fiona McEligott, Alan Finan

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.9field-weighted citation impact, top 22% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Fontaine progeroid syndrome-A case report.Clinical case reports · 2022
    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

8 authors at 2 institutions in 1 country.

Sinéad LallyDepartment of Paediatrics Cavan Monaghan Hospital, RCSI Hospital Group Cavan Ireland.ORCID https://orcid.org/0000-0003-1675-3392
Nicola WalshDepartment of Clinical Genetics Children's Health Ireland at Crumlin Dublin 12 Ireland.
Janna KennyDepartment of Clinical Genetics Children's Health Ireland at Crumlin Dublin 12 Ireland.
Orla FranklinDepartment of Paediatric Cardiology, Children's Health Ireland at Crumlin Dublin 12 Ireland.
Melanie CotterDepartment of Haematology Children's Health Ireland at Crumlin Dublin 12 Ireland.
Sarah RichardsonDepartment of Paediatrics Children's Health Ireland at Temple Street Dublin 1 Ireland.
Fiona McEligottDepartment of Palliative Medicine Children's Health Ireland at Temple Street Dublin 1 Ireland.
Alan FinanDepartment of Paediatrics Cavan Monaghan Hospital, RCSI Hospital Group Cavan Ireland.
Children's Health Ireland at Crumlin · IECavan General Hospital · IE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fontaine progeroid syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene. Eleven cases have been described in the literature, with early lethality in some. We discuss the clinical course of a patient from birth until his death at 7 months.

Indexed as

anal prolapsebrachycephalycraniosynostosiscryptorchidismdeficient endochondral ossificationdelayed bone ageFontaine progeroid syndromeGorlin Chaudry—Moss Syndromehigh arched palatehypertrichosislarge anterior fontanellelaterally up slanting eyebrowslow bone densitymicrodontiamidface hypoplasiaoligodontiapoor skull ossificationprogeroid appearanceshort/absent distal phalanges of hands and feetSLC25A24 genesyndactylyumbilical herniawrinkled skin

Identifiers

PMID36093452
PMCPMC9448962
OpenAlexW4295025021

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.