ArticleOrphanet journal of rare diseases2023
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.
Article in Orphanet journal of rare diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 2 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 2 syntheses or guidelines pooled it, 20 citations in OpenAlex.
- Orthodontic and Maxillofacial Surgery Treatment in Achondroplasia for Orofacial Alterations: A Systematic Review and Preliminary Age-Stratified Guidelines.Orthodontics & craniofacial research · 2026Pooled it
- UK consensus guidelines for multidisciplinary care of children and young people with achondroplasia: a modified Delphi process.Archives of disease in childhood · 2026Guideline
- From FGFR3 Hyperactivation to Disease-Modifying Therapy in Pediatric Achondroplasia: Molecular Mechanisms, Clinical Evidence, and Emerging Treatments.Children (Basel, Switzerland) · 2026Review
- Foramen magnum decompression in infants and children with achondroplasia: clinical outcomes from a 15-patient surgical series.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- Foramen magnum stenosis, cervicomedullary decompression, and growth in children with achondroplasia: a retrospective cohort study.Orphanet journal of rare diseases · 2026Article
- OS odontoideum in an achondroplastic adult - A case report and review.Surgical neurology international · 2026Article
- Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review.World journal of methodology · 2025Review
- Approach to the Patient with Achondroplasia-New Considerations for Diagnosis, Management, and Treatment.The Journal of clinical endocrinology and metabolism · 2025Review
- A Single-Center Retrospective Analysis of a Standardized Sedation Protocol for MRI in Children with Achondroplasia: Minimal Complications and Excellent Imaging Quality.Children (Basel, Switzerland) · 2025Article
- Multidisciplinary Management of Acute Tetraparesis in an Infant with Achondroplasia, with a Focus on Anesthetic Strategies: A Case Report.Children (Basel, Switzerland) · 2025Article
- Craniofacial Effects of Zoledronic Acid on the Osteogenesis Imperfecta Mouse (-/-) Model of Severe Osteogenesis Imperfecta.Biomedicines · 2024Article
- Anatomical Characteristics of Cervicomedullary Compression on MRI Scans in Children with Achondroplasia.Journal of imaging · 2024Article
- Vosoritide therapy in children with achondroplasia under 5 years of age.Translational pediatrics · 2024Article
- Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities.European journal of pediatrics · 2024Article
- SIADH as a Rare Complication of Foramen Magnum Stenosis in an Infant With Achondroplasia.JCEM case reports · 2024Article
- European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.Advances in therapy · 2024Article
- Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in Australia.Children (Basel, Switzerland) · 2024Article
Corrections and comments
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Authors and funding
16 authors at 15 institutions in 10 countries.
Funding
Abstract
Foramen magnum stenosis is a serious, and potentially life-threatening complication of achondroplasia. The foramen magnum is smaller in infants with achondroplasia, compared with the general population, and both restricted growth in the first 2 years and premature closure of skull plate synchondroses can contribute to narrowing. Narrowing of the foramen magnum can lead to compression of the brainstem and spinal cord, and result in sleep apnoea and sudden death. There is a lack of clarity in the literature on the timing of regular monitoring for foramen magnum stenosis, which assessments should be carried out and when regular screening should be ceased. The European Achondroplasia Forum (EAF) is a group of clinicians and patient advocates, representative of the achondroplasia community. Members of the EAF Steering Committee were invited to submit suggestions for guiding principles for the detection and management of foramen magnum stenosis, which were collated and discussed at an open workshop. Each principle was scrutinised for content and wording, and anonymous voting held to pass the principle and vote on the level of agreement. A total of six guiding principles were developed which incorporate routine clinical monitoring of infants and young children, timing of routine MRI screening, referral of suspected foramen magnum stenosis to a neurosurgeon, the combination of assessments to inform the decision to decompress the foramen magnum, joint decision making to proceed with decompression, and management of older children in whom previously undetected foramen magnum stenosis is identified. All principles achieved the ≥ 75% majority needed to pass (range 89-100%), with high levels of agreement (range 7.6-8.9). By developing guiding principles for the detection and management of foramen magnum stenosis, the EAF aim to enable infants and young children to receive optimal monitoring for this potentially life-threatening complication.
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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.