Bilateral squamosal synostosis: unusual presentation of chromosome 1p12-1p13.3 deletion. Illustrative case.

Sarut Chaisrisawadisuk, Nithiwat Vatanavicharn, Verayuth Praphanphoj, Peter J Anderson, Mark H Moore

Abstract readCase Reports

In one paragraph

Article in Journal of neurosurgery. Case lessons, 2021. 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

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.

Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report.The American journal of case reports · 2022
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.

Sarut ChaisrisawadisukDivision of Plastic Surgery, Department of Surgery, and.

Nithiwat VatanavicharnDivision of Medical Genetics, Department of Paediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Verayuth PraphanphojMedical Genetics Center, Sai Mai District, Bangkok, Thailand.

Peter J AndersonCleft and Craniofacial South Australia, Women's and Children's Hospital, North Adelaide, South Australia, Australia; and.

Mark H MooreCleft and Craniofacial South Australia, Women's and Children's Hospital, North Adelaide, South Australia, Australia; and.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSquamosal sutures are minor sutures of the human skull. Early isolated fusion of the sutures (squamosal synostosis) is rarely found. OBSERVATIONS: The authors report a case of a girl who presented with an abnormal head shape and bilateral squamosal synostosis. Genetic testing revealed a chromosome 1p12-1p13.3 deletion. She has been managed with conservative treatment of the synostosis. She has global developmental delay and multiple anomalies due to the chromosome abnormality. LESSONS: Isolated squamosal suture synostosis could be an uncommon feature of chromosome 1p12-1p13.3 deletion.

Indexed as

3D-CT = three-dimensional computed tomographychromosome 1p12–1p13.3 deletioncranial suturescraniosynostosisFGFR2 = fibroblast growth factor receptor 2HMG = hydroxymethylglutaryl

Identifiers

PMID36034505

DOI10.3171/CASE20102

PMCPMC9394163

What OpenQuestion holds

Textmetadata

LicenceCC BY-NC-ND

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.