ArticleMolecular syndromology2013
Clinical, genetic and environmental factors associated with congenital vertebral malformations.
Article in Molecular syndromology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 2 of them syntheses 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.
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Who cites it
65 citing papers in PubMed, 2 syntheses or guidelines pooled it, 129 citations in OpenAlex.
- Genetics of non-isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases.Clinical genetics · 2022Pooled it
- Incidence of intraspinal abnormalities in congenital scoliosis: a systematic review and meta-analysis.Journal of orthopaedic surgery and research · 2020Pooled it
- The ethanolic extract of Salvia lachnostachys Benth is not maternotoxic, does not alter reproductive performance, but has teratogenic potential.BMC complementary medicine and therapies · 2023Trial
- INHAND: Non-proliferative and proliferative lesions of fish - Chapter 3. Fish digestive system.Journal of toxicologic pathology · 2026Article
- Fusion level selection in posterior hemivertebra resection for congenital scoliosis: clinical effect size driven feature selection and multi-criteria optimization decision model.Frontiers in medicine · 2026Article
- Congenital Scoliosis: A Comprehensive Review of Diagnosis, Management, and Surgical Decision-Making in Pediatric Spinal Deformity-An Expanded Narrative Review.Journal of clinical medicine · 2025Review
- Article
- Advances in the diagnosis and treatment of congenital scoliosis.European journal of medical research · 2025Review
- Deciphering the etiology of congenital scoliosis: A genetic and epigenetic perspective.World journal of orthopedics · 2025Review
- Reviewing the Genetic and Molecular Foundations of Congenital Spinal Deformities: Implications for Classification and Diagnosis.Journal of clinical medicine · 2025Review
- Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Spinal scoliosis: insights into developmental mechanisms and animal models.Spine deformity · 2025Review
- Congenital kyphoscoliosis: Analysis of vertebral abnormalities using model animals (Review).Experimental and therapeutic medicine · 2024Review
- Core planar cell polarity genesProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Histology and chronological magnetic resonance images of congenital spinal deformity: An experimental study in mice model.BMC musculoskeletal disorders · 2024Article
- First report of kyphoscoliosis in the narrow-ridged finless porpoises (Neophocaena asiaeorientalis): Findings from congenital and degenerative cases comparison using post-mortem computed tomography.Veterinary medicine and science · 2024Article
- Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.Orphanet journal of rare diseases · 2024Review
- Whole-Exome Sequencing Analysis Identifies Risk Genes in Atlantoaxial Dislocation Patients with Sandwich Fusion.Human mutation · 2024Article
- Tetraparesis following thoracic spine surgery in a patient with Klippel-Feil syndrome and ABCB4 mutation: a case report.Journal of medical case reports · 2023Article
- Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital vertebral malformations (CVM) pose a significant health problem because they can be associated with spinal deformities, such as congenital scoliosis and kyphosis, in addition to various syndromes and other congenital malformations. Additional information remains to be learned regarding the natural history of congenital scoliosis and related health problems. Although significant progress has been made in understanding the process of somite formation, which gives rise to vertebral bodies, there is a wide gap in our understanding of how genetic factors contribute to CVM development. Maternal diabetes during pregnancy most commonly contributes to the occurrence of CVM, followed by other factors such as hypoxia and anticonvulsant medications. This review highlights several emerging clinical issues related to CVM, including pulmonary and orthopedic outcome in congenital scoliosis. Recent breakthroughs in genetics related to gene and environment interactions associated with CVM development are discussed. The Klippel-Feil syndrome which is associated with cervical segmentation abnormalities is illustrated as an example in which animal models, such as the zebrafish, can be utilized to provide functional evidence of pathogenicity of identified mutations.
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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.