Fragile X Syndrome: Systemic and Craniofacial Characteristics
Síndrome X Frágil: características sistémicas y craneofacial
| dc.creator | Cataldo Cares, Oriana Michelle | |
| dc.creator | Araneda, Valentina | |
| dc.creator | Duran, Francisca | |
| dc.creator | Sáenz, Nicole | |
| dc.creator | Hormazábal, Francisca | |
| dc.creator | Sepúlveda, Lorena | |
| dc.date | 2025-08-24 | |
| dc.date.accessioned | 2025-09-23T19:41:37Z | |
| dc.date.available | 2025-09-23T19:41:37Z | |
| dc.identifier | https://rhv.uv.cl/index.php/asid/article/view/4355 | |
| dc.identifier | 10.22370/asd.2025.6.2.4355 | |
| dc.identifier.uri | https://revistaschilenas.uchile.cl/handle/2250/255334 | |
| dc.description | Background: Fragile X syndrome (FXS) is an X-linked disorder caused by a mutation in the FMR1 gene. It has a prevalence of 1/4000 in males and 1/8000 in females. This syndrome is associated with medical problems, intellectual disability, and language deficits. The craniofacial characteristics include a long and narrow face, prominent forehead, ears, and jaw. Despite its high prevalence, it remains poorly understood within the dental field. Objective: Describe the craniofacial, dental, and functional characteristics of patients with FXS through an exploratory literature review. Material and Methods: An electronic search was conducted in the databases of PubMed, Elsevier, Scielo, and Cochrane. The terms used were (("fragile x syndrome") AND (("characteristics") OR ("dentistry") OR ("dental") OR ("orthodontic") OR ("systemic characteristics"))); ("fragile X syndrome") AND ("dentistry"); "fragile X syndrome" AND (("characteristics"); and "fragile X syndrome". Results: The initial search generated 303 articles, and after the selection process, 18 studies were included as part of the review. Conclusion: Patients with FXS present systemic, craniofacial, and cognitive characteristics that affect their oral health and function. Further studies associated with orthodontic and oral functional areas are suggested, as the literature is limited. | en-US |
| dc.description | Antecedentes: El síndrome X frágil (FXS) es un trastorno ligado al cromosoma X, causado por una mutación del gen FMR1. Tiene una prevalencia de 1/4000 en hombres y 1/8000 en mujeres. Este síndrome se ve asociado a problemas médicos, discapacidad intelectual, déficit del lenguaje. En sus características craneofaciales se destaca su cara alargada y estrecha, frente, orejas y mandíbula prominente. A pesar de ser altamente prevalente sigue siendo poco conocido dentro del ámbito odontológico. Objetivo: Describir las características craneofaciales, odontológicas y funcionales de pacientes con FXS mediante una revisión exploratoria de la literatura. Materiales y Métodos: Se realizó una búsqueda electrónica en las bases de datos de PubMed, Elsevier, Scielo y Cochrane. Los términos utilizados fueron ((“fragile x syndrome”) AND ((“characteristics”) OR (“dentistry”) OR (“dental”) OR (“orthodontic”) OR (“systemic characteristics”))) ;(“fragile x syndrome”) AND (“dentistry”);"fragile X syndrome" AND ((“characteristics”); y "fragile X syndrome". Resultados: La búsqueda inicial generó 303 artículos, y luego del proceso de selección se incluyeron 18 estudios como muestra de la revisión. Conclusión: Los pacientes con FXS presentan características sistémicas, craneofaciales y cognitivas que afectan su salud y función oral. Se sugiere realizar más estudios asociados al área ortodóncica y funcional oral, ya que la literatura es limitada. | es-ES |
| dc.format | application/pdf | |
| dc.language | spa | |
| dc.publisher | Universidad de Valparaíso | es-ES |
| dc.relation | https://rhv.uv.cl/index.php/asid/article/view/4355/4778 | |
| dc.rights | Derechos de autor 2025 Applied Sciences in Dentistry | es-ES |
| dc.rights | http://creativecommons.org/licenses/by/4.0 | es-ES |
| dc.source | Applied Sciences in Dentistry; Vol. 6 No. 2 (2025) | en-US |
| dc.source | Applied Sciences in Dentistry; Vol. 6 Núm. 2 (2025) | es-ES |
| dc.source | 0719-5761 | |
| dc.source | 0719-5761 | |
| dc.title | Fragile X Syndrome: Systemic and Craniofacial Characteristics | en-US |
| dc.title | Síndrome X Frágil: características sistémicas y craneofacial | es-ES |
| dc.type | info:eu-repo/semantics/article | |
| dc.type | info:eu-repo/semantics/publishedVersion |
This item appears in the following Collection(s)
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Applied Sciences in Dentistry
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