ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2008
Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction.
Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2012Pooled it
- Cranial vault suspension for basilar invagination in patients with open cranial sutures: technique and long-term follow-up. Illustrative case.Journal of neurosurgery. Case lessons · 2023Article
- Article
- From Anatomic to Genetic Understanding of Developmental Craniovertebral Junction Abnormalities.Neurospine · 2020Article
- Proatlas anomalies in craniofacial malformations: 5-year experience in King Chulalongkorn Memorial Hospital.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Review
- Optimizing Alignment Parameters During Craniocervical Stabilization and Fusion: A Technical Note.Cureus · 2020Article
- Management opinions from different centers (Rio de Janeiro).Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2019Article
- A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity.Frontiers in genetics · 2018Article
- Role of dynamic computed tomography scans in patients with congenital craniovertebral junction malformations.World journal of orthopedics · 2017Article
- Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2016Review
- A novel technique to treat acquired Chiari I malformation after supratentorial shunting.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2016Article
- Craniovertebral fusion in an infant using struts of banked adult bone.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2016Article
- Congenital axis dysmorphism in a medieval skeleton : …secunda a vertendo epistropheus….Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2013Article
- Craniovertebral junction abnormality in a case of Joubert syndrome.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2012Article
- Recurrent attacks of headache and neck pain caused by congenital aplasia of the posterior arch of atlas in an adult.BMJ case reports · 2010Article
- Craniovertebral junction instability in Larsen syndrome: An institutional series and review of literature.Journal of craniovertebral junction & spineArticle
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionThe craniocervical junction is a vital component in understanding the function of the human central nervous system. It is the threshold for major pathways affecting both brain and spinal cord function, and these structures are intricately housed in a network of bone, ligaments, and soft tissues. Abnormal development of any of these components may lead to altered structure, and therefore, altered function in the central nervous system. MATERIALS AND
methodsWe herein describe a set of genetic syndromes that commonly affect the craniovertebral junction and offer clinical examples from more than 6,000 patients who have been treated for these disorders. DISCUSSION: The syndromes described include Chiari type I malformation, Conradi syndrome, Goldenhar syndrome, Klippel-Feil syndrome, Larsen syndrome, Morquio syndrome, Pierre-Robin syndrome, spondyloepiphyseal dysplasia congenital and Weaver syndrome. The genetic mechanisms responsible for these disorders may offer unique insight into the developmental pathways and patterning in the musculoskeletal and cranial systems and may, ultimately, guide future diagnosis and treatment.
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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.