Evidence map›Paper›PMID 38482256›Full record

ArticleBalkan journal of medical genetics : BJMG2023

Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report.

A Lamzouri, A El Rherbi, I Ratbi, F Z Laarabi, R Chahboune, S C Elalaoui, H Hamdaoui, R S Bencheikh, A Sefiani

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PubMed Full text at PMC Publisher
In one paragraph

Article in Balkan journal of medical genetics : BJMG, 2023. 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 72% 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, 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

9 authors at 3 institutions in 1 country.

A LamzouriLife and Health Sciences Laboratory, Faculty of Medicine and Pharmacy of Tangier, Abdelmalek Essaâdi University, Morocco.
A El RherbiPoison control and pharmacovigilance center, Rabat, Morocco.
I RatbiResearch Center in Genomics of Human Pathologies (GENOPATH), Faculty of Medicine and Pharmacy, Mohammed V University in Rabat, Rabat, Morocco.
F Z LaarabiLife and Health Sciences Laboratory, Faculty of Medicine and Pharmacy of Tangier, Abdelmalek Essaâdi University, Morocco.
R ChahbouneLife and Health Sciences Laboratory, Faculty of Medicine and Pharmacy of Tangier, Abdelmalek Essaâdi University, Morocco.
S C ElalaouiResearch Center in Genomics of Human Pathologies (GENOPATH), Faculty of Medicine and Pharmacy, Mohammed V University in Rabat, Rabat, Morocco.
H HamdaouiDepartment of Medical Genetics and Oncogenetics, Mohammed VI University Hospital, Tangier, Morocco.
R S BencheikhPoison control and pharmacovigilance center, Rabat, Morocco.
A SefianiResearch Center in Genomics of Human Pathologies (GENOPATH), Faculty of Medicine and Pharmacy, Mohammed V University in Rabat, Rabat, Morocco.
Abdelmalek Essaâdi University · MAMohammed V University · MADirection de l’Epidémiologie et de Lutte contre les Maladies · MA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development characterized by numerous developmental anomalies that are restricted to the head and neck. Most TCS cases are inherited in an autosomal dominant manner. The diagnosis of TCS relies on clinical and radiographic findings. The four genes involved in TCS are Case presentation: In this report, we present the case of a 7-year-old Moroccan boy who exhibited distinctive dysmorphic features, including coloboma and zygomatic bone hypoplasia. Upon genetic analysis, a mutation in the Conclusions: This case highlights the importance of seeking pharmacovigilance advice if any adverse event occurs following medication use. Furthermore, requesting a genetic consultation to establish a confirmed etiological diagnosis for any malformation syndrome can significantly reduce the protracted social and psychological suffering that patients and their families may endure.

Indexed as

Genetic consultationPharmacovigilanceTCOF1 geneTeratogenicityTreacher Collins syndrome

Identifiers

PMID38482256
PMCPMC10932594
OpenAlexW4392683358

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.