Evidence map›Paper›PMID 34993029›Full record

ArticleCureus2021

Tetrasomy 18p Initially Misdiagnosed as Cerebral Palsy in an Adult Patient.

Yusuf Mehkri, Rebecca Jules, Aisha Elfasi, Hans Shuhaiber

Open access · diamondAbstract readCase Reports
In one paragraph

Article in Cureus, 2021. 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 37% 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, 2 citations in OpenAlex.

No citing paper in PubMed yet.

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

4 authors at 2 institutions in 1 country.

Yusuf MehkriNeurosurgery, University of Florida, Gainesville, USA.
Rebecca JulesNeurology, University of California, Los Angeles, USA.
Aisha ElfasiNeurology, University of Florida, Gainesville, USA.
Hans ShuhaiberNeurology, University of Florida, Gainesville, USA.
University of California, Los Angeles · USUniversity of Florida · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tetrasomy 18p is a rare genetic condition characterized by a supernumerary 18p isochromosome with two copies of the p arm of chromosome 18 causing patients to have an extra chromosome. Most cases are de novo; however, a few maternally inherited cases have been reported. The most commonly reported manifestations of this condition are developmental delay, cognitive impairments, muscle tone abnormalities, and dysmorphic facial features. This case details a new diagnosis of tetrasomy 18p in a 42-year-old adult who was initially diagnosed with cerebral palsy as a child. We compare the phenotypic traits of our patient with the ones reported in the literature.

Indexed as

cerebral palsychromosome 18geneticsmultisystemtetrasomy 18p syndrome

Identifiers

PMID34993029
PMCPMC8720037
OpenAlexW3215080977

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.