ReviewChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2012
Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.
Review in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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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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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Genetics versus environment in the pathophysiology of sagittal synostosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Pooled it
- Phenotypic heterogeneity in Crouzon syndrome: A case of severe intracranial hypertension from isolated temporal squamosal suture synostosis with a de novo FGFR2 p.Cys342Tyr mutation.Radiology case reports · 2026Article
- Sports participation after craniosynostosis repair: the critical role of post-operative guidance in parental decision-making.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Article
- Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.Frontiers in molecular biosciences · 2022Article
- Sporting activity after craniosynostosis surgery in children: a source of parental anxiety.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
- GLI1 and AXIN2 Are Distinctive Markers of Human Calvarial Mesenchymal Stromal Cells in Nonsyndromic Craniosynostosis.International journal of molecular sciences · 2020Article
- Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis.Plastic and reconstructive surgery. Global open · 2019Article
- Physiologic closure time of the metopic suture in South Australian infants from 3D CT scans.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2019Article
- Article
- Overactive autophagy is a pathological mechanism underlying premature suture ossification in nonsyndromic craniosynostosis.Scientific reports · 2018Article
- Genetic advances in craniosynostosis.American journal of medical genetics. Part A · 2017Review
- Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.Frontiers in neuroscience · 2017Review
- Computer-assisted shape descriptors for skull morphology in craniosynostosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2016Article
- Language Impairments in ASD Resulting from a Failed Domestication of the Human Brain.Frontiers in neuroscience · 2016Article
- Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement.Journal of medical genetics · 2015Article
- The suture provides a niche for mesenchymal stem cells of craniofacial bones.Nature cell biology · 2015Article
- Signaling pathways in osteogenesis and osteoclastogenesis: Lessons from cranial sutures and applications to regenerative medicine.Genes & diseases · 2015Article
- Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.European journal of human genetics : EJHG · 2014Article
- The foramen magnum in isolated and syndromic brachycephaly.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2014Article
- Review
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNon syndromic craniosynostoses are the most frequent craniofacial malformations worldwide. They represent a wide and heterogeneous group of entities, in which the dysmorphism may occur in a single (simple forms) or in multiple sutures (complex forms). Simple forms present a higher birth prevalence and are classified according to the involved suture and to the corresponding abnormal cranial shape: scaphocephaly (SC; sagittal suture), trigonocephaly (TC; metopic suture), anterior plagiocephaly (unilateral coronal suture), posterior plagiocephaly (unilateral lambdoid suture). They occur commonly as sporadic forms, although a familiar recurrence is sometimes observed, suggesting a mendelian inheritance. The genetic causes of simple craniosynostosis are still largely unknown, as mutations in common craniosynostosis-associated genes and structural chromosomal aberrations have been rarely found in these cases.
aimsThis review is intended to dissect comprehensively the state-of-the art on the genetic etiology of single suture craniosynostoses, in the attempt to categorize all known disease-associated genes and chromosomal aberrations. Possible genotype/phenotype correlations are discussed as useful clues towards the definition of optimized clinical management flowcharts.
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Registered trials
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.