Evidence map›Paper›PMID 39238717›Full record

ArticleCureus2024

A Unique Clinical Presentation of Congenital Thumb Aplasia, Radioulnar Synostosis, and Chiari Malformation: A Potential Pediatric Syndromic Association.

Taylor F Faust, Jackson Carlyle, Julee Reitzel, Aftab Khan, Grace Williams

Abstract readCase Reports
In one paragraph

Article in Cureus, 2024. 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

5 authors.

Taylor F FaustDepartment of Research, Alabama College of Osteopathic Medicine, Dothan, USA.
Jackson CarlyleDepartment of Research, Edward Via College of Osteopathic Medicine, Auburn, USA.
Julee ReitzelDepartment of Research, Alabama College of Osteopathic Medicine, Dothan, USA.
Aftab KhanDepartment of Research, Alabama College of Osteopathic Medicine, Dothan, USA.
Grace WilliamsDepartment of Pediatrics, Decatur Morgan Hospital, Decatur, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The medical literature does not currently report a case of co-occurring congenital thumb aplasia, radioulnar synostosis (RUS), and Chiari malformation with scoliosis. Furthermore, there is an overlap of clinical features with other documented syndromes and associations that have potential cardiac, gastrointestinal, hematologic, and nephrological implications, thus contributing to increased morbidity and mortality if left undetected. We describe an interesting case of congenital thumb aplasia, RUS, and Chiari malformation with scoliosis in the absence of non-musculoskeletal abnormalities. These findings prompted further investigation to determine whether this is a unique presentation of a previously described syndrome, due to teratogenic exposure in utero, or a syndromic association yet to be adequately identified by the scientific community. We also identified several candidate genes that may guide genetic testing in the future.

Indexed as

chiari i malformationcongenital thumb aplasiapediatric geneticspediatric scoliosispediatrics orthopedicsradioulnar synostosisvacterl syndrome

Identifiers

PMID39238717
PMCPMC11375997

What OpenQuestion holds

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Registered trials

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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.