Evidence map›Paper›PMID 37698759›Full record

ArticleIndian journal of pediatrics2024

Faces of Fibrodysplasia Ossificans Progressiva: Lessons from a Clinical Masquerader.

Ambika Gupta, Puneeta Mishra, Madhumita Roy Chowdhury, Shah Alam Khan, Manisha Jana, Madhulika Kabra, Neerja Gupta

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Article in Indian journal of pediatrics, 2024. 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
0.2field-weighted citation impact, top 39% 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

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

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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

7 authors at 1 institution in 1 country.

Ambika GuptaDivision of Genetics, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mother Child Block, Ansari Nagar, New Delhi, 110029, India.
Puneeta MishraDivision of Genetics, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mother Child Block, Ansari Nagar, New Delhi, 110029, India.
Madhumita Roy ChowdhuryDivision of Genetics, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mother Child Block, Ansari Nagar, New Delhi, 110029, India.
Shah Alam KhanDepartment of Orthopedics, All India Institute of Medical Sciences (AIIMS), Ansari Nagar, New Delhi, 110029, India.
Manisha JanaDepartment of Radiodiagnosis and Intervention Radiology, All India Institute of Medical Sciences (AIIMS), Ansari Nagar, New Delhi, 110029, India.
Madhulika KabraDivision of Genetics, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mother Child Block, Ansari Nagar, New Delhi, 110029, India.
Neerja GuptaDivision of Genetics, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mother Child Block, Ansari Nagar, New Delhi, 110029, India. neerja17@gmail.com.ORCID 0000-0002-7108-1974
All India Institute of Medical Sciences · IN

Funding

Indian Council of Medical Research ID No. 2019-1455Indian Council of Medical Research ISRM/12(40)/2019
6 · The paper itself

Abstract

objectivesTo evaluate the natural history and to highlight the possible masqueraders causing diagnostic delay and iatrogenic interventions in Fibrodysplasia Ossificans Progressiva (FOP).

methodsPatient details with suspected FOP were retrieved from the patient registry from 2012 through 2021. Clinical records, X-rays, clinical photographs, and molecular testing results were captured. Follow-up was recorded where available.

resultsA total of 16 patients with a clinical diagnosis of FOP were found. Twelve patients with both clinical and molecular records were included in this study. The median age of onset and diagnosis was 1.5 y and 6.5 y respectively with a median diagnostic delay of 3.5 y. The disease course was progressive in ten patients. Seven out of twelve patients were subjected to invasive procedures due to misdiagnosis, which exacerbated their disease progression.

conclusionsClinical suspicion followed by molecular testing is straightforward for a confirmed diagnosis of FOP. It is not only diagnostic, cost-effective, and saves time but also avoids unnecessary interventions in these patients.

Indexed as

Myositis OssificansAdolescentChildChild, PreschoolDelayed DiagnosisDiagnosis, DifferentialDiagnostic ErrorsDisease ProgressionFemaleHumansInfantMaleACVR1Fibrodysplasia ossificans progressivaHeterotopic ossificationMisdiagnosisMyositis ossificans

Identifiers

PMID37698759
OpenAlexW4386623822

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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.