Evidence map›Paper›PMID 35476093›Full record

ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2022

Polymicrogyria, aventriculy, polydactyly, encephalocele, callosal agenesis (PAPEC): a new syndrome?

A B Kelani, S Sanoussi, M Garba Mamadou, M Catala

Abstract readCase Reports
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In one paragraph

Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2022. 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
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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

0 citing papers in PubMed.

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.

A B KelaniDépartement de Chirurgie, Faculté Des Sciences de La Santé (FSS), de l'Université Abdou Moumouni (UAM), Niamey, Niger.
S SanoussiDépartement de Chirurgie, Faculté Des Sciences de La Santé (FSS), de l'Université Abdou Moumouni (UAM), Niamey, Niger.
M Garba MamadouService de Radiologie, Hôpital National, Niamey, Niger.
M CatalaInstitut de Biologie Paris Seine (IBPS) - Developmental Biology Laboratory, UMR 7622 CNRS, INSERM ERL 1156, Sorbonne Université 9 quai Saint-Bernard, 75005, Paris, France. martin.catala@upmc.fr.ORCID http://orcid.org/0000-0003-1554-9007

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionAventriculy is a very rare observation and is generally associated with holoprosencephaly. We report here a case of polymalformation affecting the brain, hands, and feet observed in a highly consanguineous family in Niger. CASE REPORT: A boy was born from a highly consanguineous family presenting multiple malformations (aventriculy, extreme microcephaly, polydactyly, polymicrogyria, callosal agenesis, and parietal encephalocele). To the best of our knowledge, such association has never been reported so far. DISCUSSION: We propose to name this association PAPEC (for polymicrogyria, aventriculy, polydactyly, encephalocele, and callosal agenesis). The occurrence of this disease in a highly consanguineous family suggests a genetic origin. Furthermore, we propose hypotheses that could explain pathophysiology of this defect.

Indexed as

PolydactylyPolymicrogyriaAgenesis of Corpus CallosumEncephaloceleHumansMaleSyndromeCell proliferationCentrioleChoroid plexusCilia

Identifiers

PMID35476093

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.