Evidence map›Paper›PMID 31988813›Full record

ArticleCureus2019

Joubert Syndrome: A Rare Radiological Case.

Ali Akhtar, Syed Adeel Hassan, Noor Ul Falah, Maham Khan, Fahad N Sheikh

Open access · diamondAbstract readCase Reports
In one paragraph

Article in Cureus, 2019. 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
1.4field-weighted citation impact, top 16% 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

1 citing paper in PubMed, 10 citations in OpenAlex.

  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 at 2 institutions in 1 country.

Ali AkhtarInternal Medicine, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, PAK.
Syed Adeel HassanInternal Medicine, Dow University of Health Sciences, Karachi, PAK.
Noor Ul FalahPathology, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, PAK.
Maham KhanRadiology, Armed Forces Institute of Radiology and Imaging, Islamabad, PAK.
Fahad N SheikhInternal Medicine, Sahiwal Medical College, Sahiwal, PAK.
Shaukat Khanum Memorial Cancer Hospital and Research Center · PKArmed Forces Institute of Pathology · PK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Joubert syndrome is a rare autosomal recessive neurodevelopmental disease characterized by abnormal breathing patterns composed of episodic tachypnea/apnea, hypotonia, ataxia, developmental delay, intellectual impairment, ocular impairment, renal cysts, and hepatic fibrosis. We report the case of a 4-year-old boy who presented with global developmental delay, bilateral nystagmus, and gaze instability with difficulty walking and maintaining an upright posture. A detailed examination revealed facial dysmorphic features with a depressed nasal bridge and deepened orbital sockets. Neurological examination yielded positive results for hypotonia, gait ataxia, bilateral horizontal pendular nystagmus, and a grade 1 ptosis more prominent in the right eye. However, no abnormal breathing patterns were observed in our case. Magnetic resonance imaging revealed the characteristic molar tooth sign and a batwing appearance of the fourth ventricle.

Indexed as

batwing configurationdelayed milestonesinfantile hypotoniajoubert syndromemolar tooth appearanceoculomotor dysfunction

Identifiers

PMID31988813
PMCPMC6970099
OpenAlexW2994610852

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.