Evidence map›Paper›PMID 29230159›Full record

ArticleMolecular syndromology2017

Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with

Pamela Trejo, Frank Rauch, Francis H Glorieux, Jean Ouellet, Thierry Benaroch, Philippe M Campeau

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

Article in Molecular syndromology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
0.7field-weighted citation impact, top 24% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. MutantFrontiers in genetics · 2022
    Article
  4. Review
  5. 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

6 authors at 1 institution in 1 country.

Pamela TrejoShriners Hospital for Children and McGill University, Department of Pediatrics, CHU Sainte-Justine Hospital, University of Montreal, Montreal, Québec, Canada.
Frank RauchShriners Hospital for Children and McGill University, Department of Pediatrics, CHU Sainte-Justine Hospital, University of Montreal, Montreal, Québec, Canada.
Francis H GlorieuxShriners Hospital for Children and McGill University, Department of Pediatrics, CHU Sainte-Justine Hospital, University of Montreal, Montreal, Québec, Canada.
Jean OuelletShriners Hospital for Children and McGill University, Department of Pediatrics, CHU Sainte-Justine Hospital, University of Montreal, Montreal, Québec, Canada.
Thierry BenarochShriners Hospital for Children and McGill University, Department of Pediatrics, CHU Sainte-Justine Hospital, University of Montreal, Montreal, Québec, Canada.
Philippe M CampeauShriners Hospital for Children and McGill University, Department of Pediatrics, CHU Sainte-Justine Hospital, University of Montreal, Montreal, Québec, Canada.
McGill University · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is a rare entity with a recessive inheritance. In this report, we describe 3 affected members of the same family who present with short stature, hyperlaxity with secondary spinal malalignment, ulnar subluxation, developmental dysplasia of the hips, and craniofacial alterations; one member also had learning difficulties. DNA analysis showed compound heterozygous variants in the

Indexed as

B3GALT6Joint laxitySkeletal dysplasiaSpondyloepimetaphyseal dysplasia

Identifiers

PMID29230159
PMCPMC5701276
OpenAlexW2752131276

What OpenQuestion holds

Textmetadata
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.