Molecular Mechanisms Involved in Craniosynostosis
Open accessAbstract
Craniosynostosis refers to the early fusion of one or many cranial sutures, causing craniofacial abnormalities observed in 1:2,500 births worldwide. In most cases (85%), craniosynostosis is presented as sporadic anomaly (non-syndromic craniosynostosis), while in other cases (15%) as part of syndromes (syndromic craniosynostosis). Patients with syndromic disorder usually have more severe symptoms compared to those with single suture synostosis. Most common syndromes of craniosynostosis include Pfeiffer, Apert, Crouzon, Jackson-Weiss, Muenke and Boston type MSX2-related syndrome. The main gene mutations in craniosynostosis involve FGFR1, FGFR2, FGFR3, TWIST1 and MSX2, which encode key factors influencing cranial bone morphogenesis. The main therapeutic approaches are surgical as discussed in this review, and the type of therapy depends on the graveness of the incident.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Craniosynostosis is considered one cause of cerebral skull deformations, leading to abnormal forms in 1 in 1800-2200 newborns worldwide.
“Одной из причин их возникновения считается краниосиностоз -преждевременное зарастание одного или нескольких швов крыши черепа, что приводит к появлению аномальных форм у 1 из 1800-2200 новорождённых по всему миру [15, 16].”
From Cranioscopic and craniometric characteristics of the adult neurocranium in normal and deformed states (2025) · cites this paper as [16]
The Abstract (p. 36) defines craniosynostosis as early fusion of one or more cranial sutures causing craniofacial abnormalities. It gives a worldwide frequency of 1 in 2,500 births, not 1 in 1,800–2,200. (LLM, conf=0.91)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
The citation lists haven’t been fetched yet
References 78 · Cited by 28
Research works printed but not linked: 3
- Rice DP: Craniofacial sutures. Development, disease and treatment. Preface. Front Oral Biol 12: xi, 2008. PMID: 18491429.
- Cohen MM Jr: The new bone biology: pathologic, molecular, and clinical correlates. Am J Med Genet A 140(23): 2646-2706, 2006. PMID: 17103447. DOI: 10.1002/ajmg.a.31368 · DOI
- el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D, Bourgeois P, Bolcato-Bellemin AL, Munnich A and Bonaventure J: Mutations of the TWIST gene in the Saethre- Chotzen syndrome. Nat Genet 15(1): 42-46, 1997. PMID: 8988167. DOI: 10.1038/ng0197-42 · DOI
- Authors
- YAPIJAKIS, C., PACHIS, N., SOTIRIADOU, T., VAILA, C., MICHOPOULOU, V., & VASSILIOU, S.
- Affiliations
- National and Kapodistrian University of Athens (GR)
- Venue
- In Vivo
- Published
- 2023
- Volume
- 37
- Issue
- 1
- Pages
- 36-46
- ISSN
- 0258-851X (ISSN-L)
- 1791-7549
- PMC
- PMC9843758
- OpenAlex
- W4313475111
- Cited by
- 28
- References
- 78
- Citations by year
- 2026: 6 · 2025: 15 · 2024: 6 · 2023: 1
- FWCI
- 1.07
- Type
- journal article
- Language
- en
- Open access
- diamond
- doi.org
- Licence
- cc-by-nc-nd
- Locations
- In Vivo (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
- Health Sciences › Medicine › Rheumatology › Osteomyelitis and Bone Disorders Research
- Keywords
- craniosynostosis, cranial sutures, syndromic craniosynostosis, nonsyndromic craniosynostosis, FGFR1, FGFR2, FGFR3, TWIST1, Msx2, craniofacial anomalies, craniosynostosis surgery, Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Muenke syndrome
- MeSH terms
- Craniosynostoses, Humans, Mutation, Skull, Syndrome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
