ReviewChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2012
Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.
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 18 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
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.
- Nervous system involvement in Pfeiffer syndrome.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Pooled it
- Article
- Syndromic Craniosynostosis: A Comprehensive Review.Cureus · 2023Review
- Crouzon Syndrome Spanning Three Generations: Advances in the Treatment of Syndromic Midface Deficiency.Plastic and reconstructive surgery. Global open · 2023Article
- Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family.Molecular genetics & genomic medicine · 2022Article
- FACEts of mechanical regulation in the morphogenesis of craniofacial structures.International journal of oral science · 2021Review
- Neuro-Ophthalmological Manifestations of Craniosynostosis: Current Perspectives.Eye and brain · 2021Review
- Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis.Molecular genetics & genomic medicine · 2020Article
- Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis.Plastic and reconstructive surgery. Global open · 2019Article
- Deviating dental arch morphology in mild coronal craniosynostosis syndromes.Clinical oral investigations · 2019Article
- Syndromic Craniosynostosis: Complexities of Clinical Care.Molecular syndromology · 2019Review
- A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners.Journal of genetic counseling · 2017Article
- Distinct sets of FGF receptors sculpt excitatory and inhibitory synaptogenesis.Development (Cambridge, England) · 2015Article
- Morphology of the foramen magnum in syndromic and non-syndromic brachycephaly.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2015Article
- Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.BMC medical genetics · 2014Article
- [Uncommon acne-associated syndromes and their significance in understanding the pathogenesis of acne].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2013Article
- Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.PloS one · 2013Article
- Crouzon syndrome: Genetic and intervention review.Journal of oral biology and craniofacial researchReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
purposeMore than 60 different mutations have been identified to be causal in syndromic forms of craniosynostosis. The majority of these mutations occur in the fibroblast growth factor receptor 2 gene (FGFR2). The clinical management of syndromic craniosynostosis varies based on the particular causal mutation. Additionally, the diagnosis of a patient with syndromic craniosynostosis is based on the clinical presentation, signs, and symptoms. The understanding of the hallmark features of particular syndromic forms of craniosynostosis leads to efficient diagnosis, management, and long-term prognosis of patients with syndromic craniosynostoses.
methodsA comprehensive literature review was done with respect to the major forms of syndromic craniosynostosis and additional less common FGFR-related forms of syndromic craniosynostosis. Additionally, information and data gathered from studies performed in our own investigative lab (lab of Dr. Muenke) were further analyzed and reviewed. A literature review was also performed with regard to the genetic workup and diagnosis of patients with craniosynostosis.
resultsPatients with Apert syndrome (craniosynostosis syndrome due to mutations in FGFR2) are most severely affected in terms of intellectual disability, developmental delay, central nervous system anomalies, and limb anomalies. All patients with FGFR-related syndromic craniosynostosis have some degree of hearing loss that requires thorough initial evaluations and subsequent follow-up.
conclusionsPatients with syndromic craniosynostosis require management and treatment of issues involving multiple organ systems which span beyond craniosynostosis. Thus, effective care of these patients requires a multidisciplinary approach.
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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.