Disease: Achondroplasia
- <em>De novo</em> variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series
- A case of facial palsy after spinal surgery with prone positioning in a patient with achondroplasia
- A scoping review of nutrition issues and management strategies in individuals with skeletal dysplasia
- Achondroplasia
- Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers
- Alteration of major venous drainage routes in a patient with achondroplasia after ventriculoperitoneal shunt placement
- Anesthetic management of parturients with achondroplasia: a case series
- Appraisal of Clinical Practice Guideline: International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia
- Bariatric Surgery in Patients with Achondroplasia, a Feasibility Study of Two Case Studies
- Body composition and resting energy expenditure in a group of children with achondroplasia
- Body composition and resting energy expenditure in a group of children with achondroplasia: Effectiveness of predictive models in the treatment of obesity
- Burden and Treatment of Achondroplasia: A Systematic Literature Review
- Case of twin achondroplasia and autism coexistence and literature review
- Case Report: Whole-exome sequencing identified two novel COMP variants causing pseudoachondroplasia
- CCNK Gene Deficiency Influences Neural Progenitor Cells Via Wnt5a Signaling in CCNK-Related Syndrome
- Cell-based screen identifies porphyrins as FGFR3 activity inhibitors with therapeutic potential for achondroplasia and cancer
- Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data
- Combined achondroplasia and short stature homeobox (SHOX) gene deletion in a Danish infant
- Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant
- Craniofacial and Dental Manifestations in Pediatric Patients with Achondroplasia: A Case Report and Clinical View
- Craniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis
- Curcumin and Resveratrol: Nutraceuticals with so Much Potential for Pseudoachondroplasia and Other ER-Stress Conditions
- Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias
- Dental characteristics of patients with four different types of skeletal dysplasias
- Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model
- Diagnosis and treatment of achondroplasia
- Diagnosis of thanatophoric dysplasia using clinical exome screening
- Embryonic cranial cartilage defects in the Fgfr3(Y367C) (/+) mouse model of achondroplasia
- Embryonic cranial cartilage defects in the Fgfr3<sup>Y367C</sup> <sup>/+</sup> mouse model of achondroplasia
- Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)
- European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis
- Evaluation of functionality-mobility in patients with skeletal dysplasias. Application of the STEMS tool ("everyday symptoms and mobility screening tool for skeletal dysplasias")
- Evaluation of simultaneous bilateral femoral distraction osteogenesis with antegrade intramedullary lengthening nails in achondroplasia with rhizomelic short stature: a retrospective study of 15 patients with a minimum follow-up of 2 years
- Evolution of orthopaedic diseases through four thousand three hundred years: from ancient Egypt with virtual examinations of mummies to the twenty-first century
- Exacerbation of Spinal Stenosis Symptoms Following Neuraxial Anesthesia in an Achondroplastic Cesarean Section
- Exploring the family experience of children aged 2-4 years receiving daily vosoritide injections: A qualitative study
- Exploring the Micro-Mosaic Landscape of <em>FGFR3</em> Mutations in the Ageing Male Germline and Their Potential Implications in Meiotic Differentiation
- Functional characterization of a rare pathogenic variant c.875G > A, p.(Cys292Tyr) in COMP
- Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures
- Heterozygous FGFR3 c.138G>A Mutation Presenting With Achondroplasia and Hemifacial Microsomia
- Heterozygous FGFR3 c.138G>A Mutation Presenting With Achondroplasia and Hemifacial Microsomia
- Higher rates of non-skeletal complications and greater healthcare needs in achondroplasia compared to the general UK population: a matched cohort study using the CPRD database
- How Body Mass Index Compromises Care of Patients With Disabilities
- How pain affect real life of children and adults with achondroplasia: A systematic review
- Identification of potential non-invasive biomarkers in diastrophic dysplasia
- Infigratinib, a selective FGFR1-3 tyrosine kinase inhibitor, alters dentoalveolar development at high doses
- Instrumented Balance Error Scoring System in Children and Adolescents-A Cross Sectional Study
- Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies
- Long-term oral meclozine administration improves survival rate and spinal canal stenosis during postnatal growth in a mouse model of achondroplasia in both sexes
- Low-Dose Infigratinib Increases Bone Growth And Corrects Growth Plate Abnormalities In An Achondroplasia Mouse Model
- Male reproductive ageing: a radical road to ruin
- Mutational analysis of consanguineous families and their targeted therapy against dwarfism
- Natural disease course modeling of achondroplasia to evaluate the efficacy of recifercept in the absence of a placebo control arm in phase II study
- Neurosurgical management of cervicomedullary compression, spinal stenosis, and hydrocephalus in pediatric achondroplasia: a systematic review
- New treatments for children with achondroplasia
- Novel therapeutic perspectives in Noonan syndrome and RASopathies
- Novel therapies for growth disorders
- Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial
- Orthopaedic Manifestations of Thanatophoric Dwarfism: A Case Report
- Pediatric Sleep Respiratory Disorders: A Narrative Review of Epidemiology and Risk Factors
- Pharmacological and Genetic Disruption of C-Type Natriuretic Peptide (<em>nppcl</em>) Expression in Zebrafish (<em>Danio rerio</em>) Causes Stunted Growth during Development
- Phase 1b study on the repurposing of meclizine hydrochloride for children with achondroplasia
- Preclinical rodent models for human bone disease including a focus on cortical bone
- Predictors of NIV-related adverse events in children using long-term noninvasive ventilation
- Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia
- Promising horizons in achondroplasia along with the development of new drugs
- Prophylactic Intramedullary Rodding After Femoral Lengthening in Patients With Achondroplasia and Hypochondroplasia
- Quality of Life in Children With Achondroplasia Undergoing Paired Limb Lengthening With an External Fixator and Modified Distraction Control: Observational Nonrandomized Study
- Radiological characteristics of skeletal growth in neonates and infants with achondroplasia
- Real-world evidence in achondroplasia: considerations for a standardized data set
- Recommendations for neuroradiological examinations in children living with achondroplasia: a European Society of Pediatric Radiology and European Society of Neuroradiology opinion paper
- Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report
- Results and complications of bilateral limb lengthening in achondroplasia: a retrospective analysis
- Review of published 467 achondroplasia patients: clinical and mutational spectrum
- Sagittal balance parameters in achondroplasia
- Shedding New Light: Novel Therapies for Achondroplasia and Growth Disorders
- Skeletal Dysplasia: A Case Report
- Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period
- Sleep-Disordered Breathing in an Infant With Achondroplasia and Foramen Magnum Stenosis
- Spinal Postures and Mobility in Children with Achondroplasia vs. Age- and Sex-Matched Healthy Individuals: A Preliminary Report
- Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child
- Surgery for Spinal Stenosis in Achondroplasia: Causes of Reoperation and Reduction of Risks
- Surgical outcome after treatment of thoracolumbar spinal stenosis in adults with achondroplasia
- Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population
- The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based study
- The clinical management of children with achondroplasia in Italy: results of clinician and parent/caregiver surveys
- The management of achondroplasia in Italy: results from a Delphi panel based on real-world experience
- The Treatment of Growth Disorders in Childhood and Adolescence
- Total hip arthroplasty in patients with common pediatric hip orthopedic pathology
- Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia
- Ultrasound-guided spinal anaesthesia in a patient with achondroplastic dwarfism and scoliosis: a case report
- Unravelling the pathogenesis of foramen magnum stenosis in patients with severe achondroplasia: a CT-based comparison with age-matched controls and FGFR3 craniosynostosis syndromes
- Unveiling the Chaos in Postural Control in Adults with Achondroplasia
- Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial
- Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice
- Vosoritide, a miracle drug, covering unmet need in achondroplasia: A regulatory update
- Walking status and spinopelvic parameters in young children with achondroplasia: 10-year follow-up
- What Is the Role for Pediatric Endocrinologists in the Management of Skeletal Dysplasias?
- What the pediatric endocrinologist needs to know about skeletal dysplasia, a primer
- Yolk Sac Tumour Arising in the Glans Penis an Achondroplasic Child: A Case Report with Summary of Prior Published Cases