ReviewJournal of applied genetics2018
Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.
Review in Journal of applied genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 27 papers, 1 of them a synthesis that pooled it.
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.
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.
Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis.Communications biology · 2023Pooled it
- Prenatal diagnosis of Apert syndrome caused by a de novo FGFR2 mutation in the second trimester: a case report.BMC pregnancy and childbirth · 2026Article
- TGFβ-mediated dural progenitor cell migration into the coronal suture is crucial for preventing craniosynostosis.Nature communications · 2026Article
- Unilateral craniosynostosis associated with ZIC1 gene mutation: a case report.Journal of surgical case reports · 2026Article
- Clinical and genetic features of syndromic craniosynostosis in 18 Chinese probands: novel candidate genes and phenotypes of known pathogenic genes.Frontiers in genetics · 2026Article
- Insight into Apert Syndrome: Reporting on Six Patients and Increasing Awareness.Molecular neurobiology · 2025Article
- Experiences of surgical complications and reoperations in nonsyndromic sagittal synostosis patients in Oulu.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Article
- Comparison of emotional and behavioral regulation between metopic and sagittal synostosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Article
- Infigratinib, a selective FGFR1-3 tyrosine kinase inhibitor, alters dentoalveolar development at high doses.Developmental dynamics : an official publication of the American Association of Anatomists · 2023Article
- Craniosynostosis in Isfahan, Iran: A Cross-Sectional Study.Journal of maxillofacial and oral surgery · 2023Article
- Review
- [Application and development of orthognathic surgery in treatment of syndromic craniosynostosis].Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery · 2023Article
- Multisuture craniosynostosis: a case report of unusual presentation of chromosome 14q32 deletion.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023Article
- Candidate genes for obstructive sleep apnea in non-syndromic children with craniofacial dysmorphisms - a narrative review.Frontiers in pediatrics · 2023Review
- Article
- Multisuture and Syndromic Craniosynostoses: Simplifying the Complex.Journal of pediatric neurosciences · 2022Review
- Imaging in Craniofacial Disorders With Special Emphasis on Gradient Echo Black-Bone and Zero Time Echo MRI Sequences.Journal of pediatric neurosciences · 2022Review
- Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.Frontiers in molecular biosciences · 2022Article
- Pathway analysis of smoking-induced changes in buccal mucosal gene expression.The Egyptian journal of medical human genetics · 2022Article
- An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.Frontiers in genetics · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
3 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Craniosynostosis (occurrence: 1/2500 live births) is a result of premature fusion of cranial sutures, leading to alterations of the pattern of cranial growth, resulting in abnormal shape of the head and dysmorphic facial features. In approximately 85% of cases, the disease is isolated and nonsyndromic and mainly involves only one suture. Syndromic craniosynostoses such as Crouzon, Apert, Pfeiffer, Muenke, and Saethre-Chotzen syndromes not only affect multiple sutures, but are also associated with the presence of additional clinical symptoms, including hand and feet malformations, skeletal and cardiac defects, developmental delay, and others. The etiology of craniosynostoses may involve genetic (also somatic mosaicism and regulatory mutations) and epigenetic factors, as well as environmental factors. According to the published data, chromosomal aberrations, mostly submicroscopic ones, account for about 6.7-40% of cases of syndromic craniosynostoses presenting with premature fusion of metopic or sagittal sutures. The best characterized is the deletion or translocation of the 7p21 region containing the TWIST1 gene. The deletions of 9p22 or 11q23-qter (Jacobsen syndrome) are both associated with trigonocephaly. The genes related to the pathogenesis of the craniosynostoses itself are those encoding transcription factors, e.g., TWIST1, MSX2, EN1, and ZIC1, and proteins involved in osteogenic proliferation, differentiation, and homeostasis, such as FGFR1, FGFR2, RUNX2, POR, and many others. In this review, we present the clinical and molecular features of selected craniosynostosis syndromes, genotype-phenotype correlation, family genetic counseling, and propose the most appropriate diagnostic algorithm.
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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.