Evidence map›Paper›PMID 41450356›Full record

ArticleCureus2025

Case of a Male Patient With Focal Dermal Hypoplasia (Goltz Syndrome), Esophageal Polyps, Scoliosis, and Bicuspid Aortic Valve.

Blagovest Stoimenov, Ralitsa Pancheva, Ventsislava Pencheva, Vasil Kolev, Rozita Karakasheva, Dimitar Stoyanov, Maria Stancheva, Radoslava Tsrancheva, Svilen Donev, Diana Petrova and 4 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cureus, 2025. 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
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.

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

14 authors.

Blagovest StoimenovPropedeutics of Internal Diseases, University Multiprofile Hospital for Active Treatment (UMHAT) Alexandrovska, Medical University Sofia, Sofia, BGR.
Ralitsa PanchevaPropedeutics of Internal Diseases, University Multiprofile Hospital for Active Treatment (UMHAT) Alexandrovska, Medical University Sofia, Sofia, BGR.
Ventsislava PenchevaPropedeutics of Internal Diseases, University Multiprofile Hospital for Active Treatment (UMHAT) Alexandrovska, Medical University Sofia, Sofia, BGR.
Vasil KolevPropedeutics of Internal Diseases, University Multiprofile Hospital for Active Treatment (UMHAT) Alexandrovska, Medical University Sofia, Sofia, BGR.
Rozita KarakashevaPropedeutics of Internal Diseases, University Multiprofile Hospital for Active Treatment (UMHAT) Alexandrovska, Medical University Sofia, Sofia, BGR.
Dimitar StoyanovPropedeutics of Internal Diseases, University Multiprofile Hospital for Active Treatment (UMHAT) Alexandrovska, Medical University Sofia, Sofia, BGR.
Maria StanchevaPropedeutics of Internal Diseases, University Multiprofile Hospital for Active Treatment (UMHAT) Alexandrovska, Medical University Sofia, Sofia, BGR.
Radoslava TsranchevaPropedeutics of Internal Diseases, University Multiprofile Hospital for Active Treatment (UMHAT) Alexandrovska, Medical University Sofia, Sofia, BGR.
Svilen DonevPropedeutics of Internal Diseases, University Multiprofile Hospital for Active Treatment (UMHAT) Alexandrovska, Medical University Sofia, Sofia, BGR.
Diana PetrovaPropedeutics of Internal Diseases, University Multiprofile Hospital for Active Treatment (UMHAT) Alexandrovska, Medical University Sofia, Sofia, BGR.
Ventseslav YordanovPropedeutics of Internal Diseases, University Multiprofile Hospital for Active Treatment (UMHAT) Alexandrovska, Medical University Sofia, Sofia, BGR.
Antonia VasilevaPropedeuticus of Internal Medicine, Medical University Sofia, Sofia, BGR.
Georgi OvnarskiPropedeuticus of Internal Medicine, Medical University Sofia, Sofia, BGR.
Diyan GenovNephrology, Clinic of Nephrology, University Multiprofile Hospital for Active Treatment (UMHAT) "St. Ivan Rilski", Sofia, BGR.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Focal dermal hypoplasia (Goltz syndrome) is an extremely rare genetic disorder characterized by specific skin manifestations and a wide range of anomalies affecting the ocular, dental, skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems. The syndrome is inherited in an X-linked dominant manner and is usually lethal in males, with adult male survivors representing only about 10% of all reported cases.​​​​​​ It has been established that mutations in the

Indexed as

bicuspid aortic valvedermal focal hypoplasiaembryonal anomaliesgenetic disordersgoltz syndromeporcnx-linked dominant inheritance

Identifiers

PMID41450356
PMCPMC12728243

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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.