Evidence map›Paper›PMID 39554307›Full record

ArticleFrontiers in pediatrics2024

Case Report: New phenotype of late-onset Stüve-Wiedemann syndrome due to a C-terminal variant in the

Evgenia Melnik, Margarita Sharova, Vladimir Kenis, Anna Morgul, Viktoria Zabnenkova, Tatiana Markova

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Article in Frontiers in pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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.

Evgenia MelnikResearch and Counseling Department, Research Centre for Medical Genetics, Moscow, Russia.
Margarita SharovaResearch and Counseling Department, Research Centre for Medical Genetics, Moscow, Russia.
Vladimir KenisH. Turner National Medical Research Center for Children's Orthopedics and Trauma Surgery of the Ministry of Health of the Russian Federation, Saint Petersburg, Russia.
Anna MorgulResearch and Counseling Department, Research Centre for Medical Genetics, Moscow, Russia.
Viktoria ZabnenkovaLaboratory of Molecular Genetic Diagnosis 3, Research Centre for Medical Genetics, Moscow, Russia.
Tatiana MarkovaResearch and Counseling Department, Research Centre for Medical Genetics, Moscow, Russia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

An early diagnosis of Stüve-Wiedemann syndrome is crucial due to its high neonatal lethality and the potential for autonomic dysfunction in children. Herein, we describe a patient with a late-onset, arthrogryposis-like phenotype form of Stüve-Wiedemann syndrome. While most cases result in neonatal complications, our patient only presented with camptodactyly, ulnar deviation of the wrist, and minor facial features at birth, resembling an arthrogryposis-like phenotype. The condition went undiagnosed until adolescence when noticeable gait and posture abnormalities emerged. Clinical and radiological findings confirmed the diagnosis of benign Stüve-Wiedemann syndrome with light autonomic dysregulation. Notably, our patient lacked the typical bent bone features but showed widened metaphyses and thickened femoral necks. Genetic analysis revealed a novel variant in the last exon of the

Indexed as

arthrogryposis-like phenotypeC-terminal variantsLIFRnew phenotypeStüve–Wiedemann syndrome

Identifiers

PMID39554307
PMCPMC11565277

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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.