Works matching Achondroplasia
Results: 1056
Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03621-7
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- Article
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02795-2
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- Article
Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US.
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- 2021
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- journal article
The first European consensus on principles of management for achondroplasia.
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- 2021
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- journal article
Craniofacial Manifestation and Orthosurgical Management of a Patient with Achondroplasia.
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- Journal of Dental Research & Review, 2022, v. 9, n. 3, p. 261, doi. 10.4103/jdrr.jdrr_40_22
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- Article
Wydłużenie kości ramiennej z zastosowaniem dystraktów monolateralnych u chorych z achondroplazją.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2007, v. 13, n. 3, p. 121
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- Article
Collagen X Marker Levels are Decreased in Individuals with Achondroplasia.
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- Calcified Tissue International, 2022, v. 111, n. 1, p. 66, doi. 10.1007/s00223-022-00966-0
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- Article
Humeral lengthening in patients with achondroplasia and in patients with post-septic shortening: comparison of procedure efficiency and safety.
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- 2018
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- journal article
Alteration of major venous drainage routes in a patient with achondroplasia after ventriculoperitoneal shunt placement.
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- 2024
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- Case Study
Unravelling the pathogenesis of foramen magnum stenosis in patients with severe achondroplasia: a CT-based comparison with age-matched controls and FGFR3 craniosynostosis syndromes.
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- Child's Nervous System, 2023, v. 39, n. 12, p. 3491, doi. 10.1007/s00381-023-06005-z
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- Article
Spinal canal stenosis in children with achondroplasia: the role of augmentation laminoplasty—a 15-year single institution experience.
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- Child's Nervous System, 2023, v. 39, n. 1, p. 229, doi. 10.1007/s00381-022-05566-9
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- Article
Myasthenia gravis complicating the surgical management of achondroplasia: a case-based update.
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- 2022
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- Case Study
Airways and craniofacial assessment in children affected by achondroplasia with and without sleep-disordered breathing: quantitative magnetic resonance study.
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- Child's Nervous System, 2022, v. 38, n. 6, p. 1147, doi. 10.1007/s00381-022-05484-w
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- Article
Endoscopic third ventriculostomy for hydrocephalus in a patient with achondroplasia: a case report and literature review.
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- Child's Nervous System, 2021, v. 37, n. 12, p. 3907, doi. 10.1007/s00381-021-05129-4
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- Article
A case of facial palsy after spinal surgery with prone positioning in a patient with achondroplasia.
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- JA Clinical Reports, 2023, v. 9, n. 1, p. 1, doi. 10.1186/s40981-023-00628-6
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- Article
What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.
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- Genes, 2023, v. 14, n. 1, p. 199, doi. 10.3390/genes14010199
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- Article
Akondroplazik Pediyatrik Hastada Anestezi Yönetimi.
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- 2010
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- Case Study
Clinical, anthropometric, radiological and molecular characteristics of Egyptian achondroplasia patients.
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- Egyptian Journal of Medical Human Genetics, 2009, v. 10, n. 1, p. 13
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- Article
Successful Delivery in a Woman With Achondroplasia: A Cases Report.
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- Acta Medica Iranica, 2017, v. 55, n. 8, p. 536
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- Article
Achondroplasia: Etiology, Clinical Presentation, and Management.
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- Neonatal Network, 2017, v. 36, n. 6, p. 337, doi. 10.1891/0730-0832.36.6.337
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- Article
Limb Lengthening for Achondroplasia: Systematic Review and Meta-analysis.
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- Egyptian Journal of Hospital Medicine, 2019, v. 74, n. 7, p. 1491
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- Article
Clinical and economic burden of achondroplasia in the United States: results from a retrospective, observational study.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-024-03268-w
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- Article
Anesthetic management of parturients with achondroplasia: a case series.
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- Baylor University Medical Center Proceedings, 2024, v. 37, n. 1, p. 63, doi. 10.1080/08998280.2023.2261084
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- Article
High-resolution computed tomography temporal bone imaging in achondroplasia.
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- Baylor University Medical Center Proceedings, 2021, v. 34, n. 3, p. 419, doi. 10.1080/08998280.2020.1868245
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- Article
Progress in managing children with achondroplasia.
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- Expert Review of Endocrinology & Metabolism, 2024, v. 19, n. 6, p. 479, doi. 10.1080/17446651.2024.2390416
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- Article
Advantages and Disadvantages of Different Treatment Methods in Achondroplasia: A Review.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5573, doi. 10.3390/ijms22115573
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- Article
Rationale, design, and methods of a randomized, controlled, open-label clinical trial with open-label extension to investigate the safety of vosoritide in infants, and young children with achondroplasia at risk of requiring cervicomedullary decompression surgery
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- Science Progress, 2021, p. 1, doi. 10.1177/00368504211003782
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- Article
Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes.
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- Sleep & Breathing, 2011, v. 15, n. 4, p. 755, doi. 10.1007/s11325-010-0432-6
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- Article
A case of achondroplasia with severe pulmonary hypertension due to obstructive sleep apnea.
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- European Archives of Oto-Rhino-Laryngology, 2006, v. 263, n. 8, p. 775, doi. 10.1007/s00405-006-0042-x
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- Article
Spinal Postures and Mobility in Children with Achondroplasia vs. Age- and Sex-Matched Healthy Individuals: A Preliminary Report.
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- Journal of Clinical Medicine, 2024, v. 13, n. 7, p. 2135, doi. 10.3390/jcm13072135
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- Article
Perioperative Complications Following Spine Surgery in Adult Patients with Achondroplasia.
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- Global Spine Journal, 2024, v. 14, n. 6, p. 1793, doi. 10.1177/21925682231157373
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- Article
Anesthesia for cesarean section in a patient with achondroplasia.
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- Colombian Journal of Anesthesiology / Revista Colombiana de Anestesiología, 2012, v. 40, n. 4, p. 309
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- Article
Optimal management of complications associated with achondroplasia.
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- Application of Clinical Genetics, 2014, v. 7, p. 117, doi. 10.2147/TACG.S51485
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- Article
Achondroplasia is associated with increased occurrence of apparent life‐threatening events.
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- Acta Paediatrica, 2021, v. 110, n. 6, p. 1842, doi. 10.1111/apa.15760
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- Article
FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset.
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- 2016
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- journal article
Unilateral Frontosphenoidal Craniosynostosis With Achondroplasia: A Case Report.
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- Cleft Palate Craniofacial Journal, 2011, v. 48, n. 5, p. 631, doi. 10.1597/09-266
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- Article
Growth references for height, weight, and head circumference for Argentine children with achondroplasia.
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- 2011
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- journal article
Ventricular septal defect closure in a patient with achondroplasia.
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- 2017
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- journal article
LIVING WITH ACHONDROPLASIA – SOME MEDICAL AND SOCIAL ASPECTS.
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- Studia Universitatis Vasile Goldis Seria Stiintele Vietii (Life Sciences Series), 2013, v. 23, n. 3, p. 309
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- Article
Achondroplasia with oligodontia: Report of a rare case.
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- 2013
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- Case Study
Gait in children with achondroplasia - a cross-sectional study on joint kinematics and kinetics.
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- 2022
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- journal article
Reverse Total Shoulder Arthroplasty in an Adult With Achondroplasia.
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- Ochsner Journal, 2024, v. 24, n. 3, p. 207, doi. 10.31486/toj.23.0135
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- Article
Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma.
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- Journal of Assisted Reproduction & Genetics, 2011, v. 28, n. 2, p. 167, doi. 10.1007/s10815-010-9489-1
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- Article
Achondroplasia and Cervicomedullary Compression: Prospective Evaluation and Surgical Treatment.
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- Pediatric Neurosurgery, 1999, v. 31, n. 2, p. 78, doi. 10.1159/000028838
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- Article
A Myofunctional Chewing Device as an Early Intervention Tool for a Child with Achondroplasia and Obstructive Sleep Apnea.
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- International Journal of Orofacial Myology & Myofunctional Therapy, 2024, v. 50, n. 1, p. 1, doi. 10.52010/ijom.2024.50.1.2
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- Article
Health-related Quality of Life in Patients with Achondroplasia after Global Limb-lengthening Surgery: A Case Series.
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- Journal of Limb Lengthening & Reconstruction, 2024, v. 10, n. 2, p. 55, doi. 10.4103/jllr.jllr_7_24
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- Article
Bilateral Ossiculoplasty in 1 Case of Achondroplasia.
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- Korean Journal of Audiology, 2013, v. 17, n. 3, p. 142, doi. 10.7874/kja.2013.17.3.142
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- Article
Omental Infarction Associated with Rib Cage Anomaly in Achondroplasia: Report of a Rare Case.
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- Journal of the Korean Society of Radiology, 2019, v. 80, n. 5, p. 992, doi. 10.3348/jksr.2019.80.5.992
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- Article
Optimal non-invasive diagnosis of fetal achondroplasia combining ultrasonography with circulating cell-free fetal DNA analysis.
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- 2019
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- Publication type:
- journal article
Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia.
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- Ultrasound in Obstetrics & Gynecology, 2014, v. 44, n. 3, p. 365, doi. 10.1002/uog.13359
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- Article