ArticlePediatrics2010
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
Article in Pediatrics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 118 papers, 3 of them syntheses that pooled it.
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Who cites it
118 citing papers in PubMed, 3 syntheses or guidelines pooled it, 287 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
- Developments in diagnostic and surgical techniques in children with sagittal suture craniosynostosis: a systematic review spanning the last 30 years.Orphanet journal of rare diseases · 2025Pooled it
- The role of pathogenic TCF12 variants in children with coronal craniosynostosis-a systematic review with addition of two novel cases.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Pooled it
- Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes.Birth defects research. Part A, Clinical and molecular teratology · 2014Trial
- Optimising Fronto-Orbital Distraction for Management of Unicoronal Craniosynostosis.Annals of biomedical engineering · 2026Article
- Endoscopic management of unilateral coronal synostosis: impact on the fronto-orbital growth.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Review
- Analysis of prenatal ultrasound in diagnosing fetal craniosynostosis and its correlation with genetic anomalies: description of two cases and literature analysis.Quantitative imaging in medicine and surgery · 2026Article
- A smart nanocomposite bioactive ink for controlled siRNA delivery in calvarial mesenchymal stromal cells as a minimally invasive treatment for craniosynostosis.Regenerative biomaterials · 2026Article
- Unilateral craniosynostosis associated with ZIC1 gene mutation: a case report.Journal of surgical case reports · 2026Article
- Sagittal craniosynostosis with Moebius syndrome; case illustration: first case in the literatüre.BMC pediatrics · 2025Review
- Genetic Testing in Craniofacial Care: Development of Algorithms for Testing Patients with Orofacial Clefting, Branchial Arch Anomalies, and Craniosynostosis.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2025Article
- Towards a radiation free numerical modelling framework to predict spring assisted correction of scaphocephaly.Computer methods in biomechanics and biomedical engineering · 2025Article
- Orthoptic findings in trigonocephaly patients after completed visual development.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Article
- Craniosynostosis in Siblings, an Extremely Rare Occurrence: A Case Report.Clinical case reports · 2024Article
- New CRISPR/Cas9-based Fgfr2Journal of molecular medicine (Berlin, Germany) · 2024Article
- Emphasis on Early Prenatal Diagnosis and Perinatal Outcomes Analysis of Apert Syndrome.Diagnostics (Basel, Switzerland) · 2024Review
- Macrocephaly and Finger Changes: A Narrative Review.International journal of molecular sciences · 2024Review
- Skeletal expansion via craniofacial distraction osteogenesis technique in syndromic craniosynostosis: impact on ophthalmic parameters.International ophthalmology · 2024Article
- In Vitro Assessment of the Neuro-Compatibility of Fe-20Mn as a Potential Bioresorbable Material for Craniofacial Surgery.Medicina (Kaunas, Lithuania) · 2024Article
- Regulatory elements inGenetics in medicine open · 2024Article
58 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
objectivesWe describe the first cohort-based analysis of the impact of genetic disorders in craniosynostosis. We aimed to refine the understanding of prognoses and pathogenesis and to provide rational criteria for clinical genetic testing.
methodsWe undertook targeted molecular genetic and cytogenetic testing for 326 children who required surgery because of craniosynostosis, were born in 1993-2002, presented to a single craniofacial unit, and were monitored until the end of 2007.
resultsEighty-four children (and 64 relatives) had pathologic genetic alterations (86% single-gene mutations and 14% chromosomal abnormalities). The FGFR3 P250R mutation was the single largest contributor (24%) to the genetic group. Genetic diagnoses accounted for 21% of all craniosynostosis cases and were associated with increased rates of many complications. Children with an initial clinical diagnosis of nonsyndromic craniosynostosis were more likely to have a causative mutation if the synostoses were unicoronal or bicoronal (10 of 48 cases) than if they were sagittal or metopic (0 of 55 cases; P = .0003). Repeat craniofacial surgery was required for 58% of children with single-gene mutations but only 17% of those with chromosomal abnormalities (P = .01).
conclusionsClinical genetic assessment is critical for the treatment of children with craniosynostosis. Genetic testing of nonsyndromic cases (at least for FGFR3 P250R and FGFR2 exons IIIa/c) should be targeted to patients with coronal or multisuture synostoses. Single-gene disorders that disrupt physiologic signaling in the cranial sutures often require reoperation, whereas chromosomal abnormalities follow a more-indolent course, which suggests a different, secondary origin of the associated craniosynostosis.
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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.