Evidence map›Paper›PMID 34193099›Full record

ArticleBMC pediatrics2021

Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.

Delia Lorenz, Wolfram Kress, Ann-Kathrin Zaum, Christian P Speer, Helge Hebestreit

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

Article in BMC pediatrics, 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
0.3field-weighted citation impact, top 33% 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, 3 citations in OpenAlex.

  1. Review
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 1 institution in 1 country.

Delia LorenzCenter for Rare Diseases, University Hospital Würzburg, University of Würzburg, Josef-Schneider-Strasse 2, 97080, Würzburg, Germany.
Wolfram KressDepartment of Human Genetics, University of Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany.
Ann-Kathrin ZaumDepartment of Human Genetics, University of Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany.
Christian P SpeerUniversity Children's Hospital Würzburg, University of Würzburg, Josef-Schneider-Strasse 2, 97080, Würzburg, Germany.
Helge HebestreitCenter for Rare Diseases, University Hospital Würzburg, University of Würzburg, Josef-Schneider-Strasse 2, 97080, Würzburg, Germany. hebestreit_h@ukw.de.ORCID 0000-0002-9266-7149
University of Würzburg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe spondylodysplastic Ehlers-Danlos subtype (OMIM #130070) is a rare connective tissue disorder characterized by a combination of connective tissue symptoms, skeletal features and short stature. It is caused by variants in genes encoding for enzymes involved in the proteoglycan biosynthesis or for a zinc transporter. PRESENTATION OF CASES: We report two brothers with a similar phenotype of short stature, joint hypermobility, distinct craniofacial features, developmental delay and severe hypermetropia indicative for a spondylodysplastic Ehlers-Danlos subtype. One also suffered from a recurrent pneumothorax. Gene panel analysis identified two compound heterozygous variants in the B4GALT7 gene: c.641G > A and c.723 + 4A > G. B4GALT7 encodes for galactosyltransferase I, which is required for the initiation of glycosaminoglycan side chain synthesis of proteoglycans.

conclusionsThis is a first full report on two cases with spondylodysplastic Ehlers-Danlos syndrome and the c.723 + 4A > G variant of B4GALT7. The recurrent pneumothoraces observed in one case expand the variable phenotype of the syndrome.

Indexed as

DwarfismEhlers-Danlos SyndromeJoint InstabilityHumansMalePhenotypeSiblingsB4GALT7 geneCase reportConnective tissue disorderSpondylodysplastic Ehlers-Danlos syndrome

Identifiers

PMID34193099
PMCPMC8243911
OpenAlexW3176961462

What OpenQuestion holds

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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.