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Analysis of institutional authors

Ortiz Movilla RAuthorMarín Gabriel MAuthor

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Saethre-Chotzen syndrome: A case report

Publicated to:Archivos Argentinos de Pediatria. 119 (2): E129-E132 - 2021-04-01 119(2), DOI: 10.5546/AAP.2021.E129

Authors: de los Rios Quintanero, Blanca Diez; Gracia Rojas, Eva; Ortiz Movilla, Roberto; Cabrejas Nunez, Maria J; Gabriel, Miguel A Marin

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Abstract

The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies. The estimated prevalence of this syndrome is 1 in 25 000-50 000 live births. We present a case report of a neonate, without relevant family history, who presented craniofacial alterations at birth. Given the phenotypic features, a cranial computed tomography scan was performed, showing partial fusion of the coronal suture, evidencing the presence of wormian bones in the metopic and right lambdoid location. With the clinical suspicion of craniofacial malformation syndrome, an analysis of the directed exome was requested confirming that the patient is a heterozygous carrier of the pathogenic variant c.415C>A, which induces a change of proline to threonine at position 139 of the TWIST1 gene, responsible for Saethre-Chotzen syndrome. The presence of wormian bones, a finding not described so far in the literature, extends the well-known phenotypic variability of this syndrome.

Keywords

acrocephalosyndactyliacraniosynostosessaethre-chotzen syndrometwist1AcrocephalosyndactyliaCranial suturesCraniosynostosesHeterozygoteHumansInfant, newbornNuclear proteinsSaethre-chotzen syndromeTwist-related protein 1Twist1Wormian bones

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Archivos Argentinos de Pediatria, and although the journal is classified in the quartile Q4 (Agencia WoS (JCR)), its regional focus and specialization in Pediatrics, give it significant recognition in a specific niche of scientific knowledge at an international level.

From a relative perspective, and based on the normalized impact indicator calculated from the Field Citation Ratio (FCR) of the Dimensions source, it yields a value of: 1.39, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: Dimensions Jun 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-06-01, the following number of citations:

  • WoS: 1
  • Scopus: 2
  • Europe PMC: 1

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-06-01:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 15.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 17 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 4.85.
  • The number of mentions on the social network X (formerly Twitter): 3 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.

Leadership analysis of institutional authors

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: Last Author (MARIN GABRIEL, MIGUEL ANGEL).