Evidence map›Paper›PMID 26401283›Full record

ArticleClinical case reports2015

Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II.

Ali Al Kaissi, Raimund Kraschl, Wilhelm Kaulfersch, Franz Grill, Rudolf Ganger

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

Article in Clinical case reports, 2015. 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
–field-weighted citation impact, top 95% 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

0 citing papers in PubMed, 4 citations in OpenAlex.

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

5 authors at 2 institutions in 1 country.

Ali Al KaissiFirst Medical Department, Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, Hanusch Hospital Vienna, Austria ; Paediatric Department, Orthopaedic Hospital of Speising Vienna, Austria.
Raimund KraschlDepartment of Pediatric and Neonatology, Klagenfurt Clinic Klagenfurt, Austria.
Wilhelm KaulferschDepartment of Pediatric and Neonatology, Klagenfurt Clinic Klagenfurt, Austria.
Franz GrillPaediatric Department, Orthopaedic Hospital of Speising Vienna, Austria.
Rudolf GangerPaediatric Department, Orthopaedic Hospital of Speising Vienna, Austria.
Orthopaedic Hospital Speising · ATUniversity of Klagenfurt · AT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We describe additional phenotypic features in a boy and his mother. Both manifested the phenotypic/genotypic correlation of oto-palato-digital syndrome type II. The mother's radiographs showed wormian bones of the skull, and paranasal bossing, her feet showed bilateral fusion of the cuboid with the lateral cuneiform bone with subsequent development of metatarsus varus associated with dysplastic distal phalanges.

Indexed as

Extended phenotypeFLNA gene Mutationoto-palato-digital type IIskeletal changes

Identifiers

PMID26401283
PMCPMC4574794
OpenAlexW2109011204

What OpenQuestion holds

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LicenceCC BY-NC
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.