Evidence map›Paper›PMID 38558960›Full record

ArticlePediatric health, medicine and therapeutics2024

Potocki-Lupski Syndrome in Ethiopian Child: A Case Report.

Endayen Deginet, Deme Abdissa, Tadele Hailu

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Pediatric health, medicine and therapeutics, 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, top 95% 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

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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, 0 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

3 authors at 1 institution in 1 country.

Endayen DeginetDepartment of Pediatrics and Child Health, School of Medicine, College of Health and Medical Sciences, Saint Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia.ORCID 0000-0002-4660-2192
Deme AbdissaDepartment of Pediatrics and Child Health, School of Medicine, College of Health and Medical Sciences, Saint Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia.
Tadele HailuDepartment of Pediatrics and Child Health, School of Medicine, College of Health and Medical Sciences, Saint Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia.
St. Paul's Hospital Millennium Medical College · ET

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Potocki-Lupski syndrome (PTLS) is a rare developmental disorder resulting from the partial duplication of the short arm of chromosome 17. Affected children may have hypotonia, facial dysmorphism, or neurological abnormalities. Case Presentation: We present the case of a 5-year-old female patient from Ethiopia diagnosed with Potocki-Lupski syndrome (PTLS)(17p11.2 microduplication) through multiplex ligation-dependent probe amplification (MLPA) testing. This technique identified the duplication of regions of the 17p11.2 chromosome ( Conclusion: A multidisciplinary team approach is imperative for managing patients with PTLS. Parental counseling and genetic advice are crucial for families with children affected by PTLS.

Indexed as

childEthiopiaPotocki-Lupski syndrome

Identifiers

PMID38558960
PMCPMC10981369
OpenAlexW4393195089

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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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.