Evidence map›Paper›PMID 35986401›Full record

ArticleItalian journal of pediatrics2022

Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene.

Francesca Mercadante, Ettore Piro, Martina Busè, Emanuela Salzano, Arturo Ferrara, Gregorio Serra, Cristina Passarello, Giovanni Corsello, Maria Piccione

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

Article in Italian journal of pediatrics, 2022. 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
0.5field-weighted citation impact, top 38% 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

2 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. LEOPARD Syndrome with a SporadicCase reports in dermatological medicine · 2023
    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

9 authors at 2 institutions in 1 country.

Francesca Mercadante *U.O.C. Medical Genetics, AOOR Villa Sofia-Cervello, Via Trabucco, 180, 90146, Palermo, PA, Italy. francescamercadante18@gmail.com.ORCID http://orcid.org/0000-0002-6914-1261
Ettore Piro *Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.
Martina BusèU.O.C. Medical Genetics, AOOR Villa Sofia-Cervello, Via Trabucco, 180, 90146, Palermo, PA, Italy.
Emanuela SalzanoU.O.C. Medical Genetics, AOOR Villa Sofia-Cervello, Via Trabucco, 180, 90146, Palermo, PA, Italy.
Arturo FerraraU.O.C. Medical Genetics, AOOR Villa Sofia-Cervello, Via Trabucco, 180, 90146, Palermo, PA, Italy.
Gregorio SerraDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.
Cristina PassarelloDepartment of Services, AOOR Villa Sofia-Cervello, Palermo, Italy.
Giovanni CorselloDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.
Maria PiccioneU.O.C. Medical Genetics, AOOR Villa Sofia-Cervello, Via Trabucco, 180, 90146, Palermo, PA, Italy.
Ospedale Vincenzo Cervello · ITUniversity of Palermo · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNoonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. Missense pathogenetic variants of SOS1 gene are the second most common cause of Noonan syndrome (NS) and account approximately for 13% to 17% of cases. Subjects carrying a pathogenetic variant in SOS1 gene tend to exhibit a distinctive phenotype that is characterized by ectodermal abnormalities. Cutis verticis gyrata (CVG) is a rare disease, congenital or acquired, characterized by the redundancy of skin on scalp, forming thick skin folds and grooves of similar aspect to cerebral cortex gyri. Several references in the literature have reported association between nonessential primary form of CVG and NS. CASE PRESENTATION: we report two cases of newborns with CVG and phenotype suggestive for NS who have been diagnosed to harbour the same pathogenetic variant in SOS1 gene.

conclusionspreviously described patients with NS presenting CVG had received only clinical diagnosis. Therefore we report the first patients with CVG in which the clinical suspicion of NS is confirmed by molecolar analysis.

Indexed as

Noonan SyndromeHumansRare DiseasesScalpCase reportCutis verticis gyrataK170ENoonan syndromeSOS1

Identifiers

PMID35986401
PMCPMC9392323
OpenAlexW4292371821

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.