Evidence map›Paper›PMID 34440363›Full record

ArticleGenes2021

Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis.

Daniele De Brasi, Francesca Orlando, Valeria Gaeta, Maria De Liso, Fabio Acquaviva, Luigi Martemucci, Augusto Mastrominico, Maja Di Rocco

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
3.1field-weighted citation impact, top 8% 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

13 citing papers in PubMed, 27 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Review
  6. Article
  7. Review
  8. Article
  9. Review
  10. [Recommendations for the healthcare of patients with FOP].Orthopadie (Heidelberg, Germany) · 2023
    Review
  11. Review
  12. Article
  13. 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 3 institutions in 1 country.

Daniele De BrasiDepartment of Pediatrics, AORN Santobono-Pausilipon, 80122 Naples, Italy.ORCID 0000-0002-9111-2985
Francesca OrlandoDepartment of Pediatrics, AORN Santobono-Pausilipon, 80122 Naples, Italy.
Valeria GaetaDepartment of Pediatrics, AORN Santobono-Pausilipon, 80122 Naples, Italy.
Maria De LisoDepartment of Neurosciences and Rehabilitation, AORN Santobono-Pausilipon, 80122 Naples, Italy.
Fabio AcquavivaDepartment of Pediatrics, AORN Santobono-Pausilipon, 80122 Naples, Italy.ORCID 0000-0001-9192-1232
Luigi MartemucciDepartment of Pediatrics, AORN Santobono-Pausilipon, 80122 Naples, Italy.
Augusto MastrominicoDepartment of Pediatrics, AORN Santobono-Pausilipon, 80122 Naples, Italy.
Maja Di RoccoDepartment of Pediatrics, IRCCS Istituto "Giannina Gaslini", 16147 Genoa, Italy.
Ospedale Buon Consiglio Fatebenefratelli · ITFederico II University Hospital · ITIstituto Giannina Gaslini · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fibrodysplasia ossificans progressiva (FOP) is an ultrarare genetic condition characterized by extraskeletal bone formation. Most of the musculoskeletal characteristics of FOP are related to dysregulated chondrogenesis, with heterotopic ossification being the most typical feature. Activating mutations of activin receptor A type I (ACVR1), a bone morphogenetic protein (BMP) type I receptor, are responsible for the skeletal and nonskeletal features. The clinical phenotype is always consistent, with congenital bilateral hallux valgus malformation and early-onset heterotopic ossification occurring spontaneously or, more frequently, precipitated by trauma. Painful, recurrent soft-tissue swellings (flare-ups) precede localized heterotopic ossification that can occur at any location, typically affecting regions near the axial skeleton and later progressing to the appendicular bones. A diagnosis of FOP is suspected in a proband presenting with hallux valgus malformation, heterotopic ossification, and confirmed by the identification of a heterozygous pathogenic variant in the

Indexed as

ChildChild, PreschoolFemaleHumansMagnetic Resonance ImagingMaleMyositis OssificansACVR1ACVR1/ALK2CNSfibrodysplasia ossificans progressivaFOPheterotopic ossificationMRI

Identifiers

PMID34440363
PMCPMC8391109
OpenAlexW3189081808

What OpenQuestion holds

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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.