ReviewOrthodontics & craniofacial research2017
A review of craniofacial and dental findings of the RASopathies.
Review in Orthodontics & craniofacial research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
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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.
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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.
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Who cites it
28 citing papers in PubMed.
- The Diverse Clinical Spectrum of Noonan Syndrome in Pediatric Endocrinology: From Classical to Atypical Phenotypes.Journal of clinical medicine · 2026Article
- Body Region Dysmorphology Is Predictive of Genetic Diagnoses in Infants With Congenital Heart Disease.Molecular genetics & genomic medicine · 2026Article
- Heterogeneity of Orodental Features in a Family with Noonan Syndrome.International journal of molecular sciences · 2025Article
- Osteosarcoma Arising in Noonan Syndrome/RASopathy Complex: First Case Report.Head and neck pathology · 2025Article
- [Diagnostic and therapeutic perspectives in RASopathies].Magyar onkologia · 2024Review
- Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives.Bone reports · 2024Review
- Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient.Molecular biology reports · 2024Review
- Exploring the clinical complexity of cardio-facio-cutaneous syndrome: insights from a pediatric case series.Frontiers in pediatrics · 2024Article
- Review
- Analysis of the Oral Microbiome in a Patient with Cardiofaciocutaneous Syndrome and Severe Periodontal Disease: Impact of Systemic Antibiotic Therapy.Antibiotics (Basel, Switzerland) · 2022Article
- Clinical Findings in Children with Noonan Syndrome-A 17-Year Retrospective Study in an Oral Surgery Center.Children (Basel, Switzerland) · 2022Article
- Third reported patient with RAP1B-related syndromic thrombocytopenia and novel clinical findings.American journal of medical genetics. Part A · 2022Article
- Giant Cell Lesions of the Jaws Involving RASopathy Syndromes.Acta stomatologica Croatica · 2022Review
- Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.Frontiers in molecular biosciences · 2022Article
- Article
- Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation inFrontiers in pediatrics · 2022Article
- Review
- CardioZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2021Review
- Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Molecular findings in maxillofacial bone tumours and its diagnostic value.Virchows Archiv : an international journal of pathology · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
Abstract
objectivesThe RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), neurofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS or Legius syndrome) and capillary malformation-arteriovenous malformation syndrome (CM-AVM). These disorders affect multiple systems, including the craniofacial complex. Although the craniofacial features have been well described and can aid in clinical diagnosis, the dental phenotypes have not been analysed in detail for each of the RASopathies. In this review, we summarize the clinical features of the RASopathies, highlighting the reported craniofacial and dental findings.
methodsReview of the literature.
resultsEach of the RASopathies reviewed, caused by mutations in genes that encode different proteins in the Ras pathway, have unique and overlapping craniofacial and dental characteristics.
conclusionsCareful description of craniofacial and dental features of the RASopathies can provide information for dental clinicians treating these individuals and can also give insight into the role of Ras signalling in craniofacial development.
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Registered trials
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