• <em>De novo</em> variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series
• A case of long-term survival of SADDAN treated with growth hormone for marked short stature
• A comprehensive systematic review of health-related quality of life measures in short stature paediatric patients
• Achondrogenesis type 1B: The need for clinical vigilance in the first trimester fetus with cystic hygroma and micromelic limbs
• Achondroplasia
• Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers
• Advances in the management of achondroplasia
• Alteration of major venous drainage routes in a patient with achondroplasia after ventriculoperitoneal shunt placement
• Anesthetic dilemmas in an achondroplastic patient undergoing elective cesarean section
• Anesthetic management of parturients with achondroplasia: a case series
• Association Between Radiological Severity of Lumbar Spinal Stenosis and Spinopelvic Parameters in Adult Patients With Achondroplasia
• Association of the Achondroplasia Foramen Magnum Score and intraoperative neuromonitoring
• 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
• Case of twin achondroplasia and autism coexistence and literature review
• Case Report: Whole-exome sequencing identified two novel COMP variants causing pseudoachondroplasia
• Cell-based screen identifies porphyrins as FGFR3 activity inhibitors with therapeutic potential for achondroplasia and cancer
• Cephalometric Evaluation of Children with Short Stature of Genetic Etiology: A Review
• Cervicomedullary Compression in Achondroplasia: A Feared Complication and an Unforeseen Risk Factor of Posterior Circulation Stroke
• Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data
• Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date
• 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
• Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in Australia
• Correction to: Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities
• 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
• Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model
• 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^Y367C ^/+ mouse model of achondroplasia
• European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia
• 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
• Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures
• Heterozygous FGFR3 c.138G&gt;A Mutation Presenting With Achondroplasia and Hemifacial Microsomia
• Heterozygous FGFR3 c.138G>A Mutation Presenting With Achondroplasia and Hemifacial Microsomia
• How pain affect real life of children and adults with achondroplasia: A systematic review
• Instrumented Balance Error Scoring System in Children and Adolescents-A Cross Sectional Study
• Laparoscopic herniorrhaphy for inguinal hernia with thanatophoric dysplasia: A case report
• 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
• Management of complete intra-articular distal femur and patellar fractures in an achondroplastic young adult; small is challenging' revisited: a case-report
• 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
• Natural history of spinal cord compression stage AFMS3 in infants with achondroplasia: retrospective cohort study
• Natural history study of Pseudoachondroplasia: A focus on oral health
• 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
• Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A&gt;G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasi
• Phosphorylation-Dependent Regulation of Guanylyl Cyclase (GC)-A and Other Membrane GC Receptors
• Preclinical rodent models for human bone disease including a focus on cortical bone
• 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
• Progress in managing children with achondroplasia
• Promising horizons in achondroplasia along with the development of new drugs
• Prophylactic Intramedullary Rodding After Femoral Lengthening in Patients With Achondroplasia and Hypochondroplasia
• Pseudoachondroplasia: Similar radiographic findings to mucopolysaccharidosis
• 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
• 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 patients with achondroplasia: a single-center's experience with follow-up and associated morbidities
• 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
• SIADH as a Rare Complication of Foramen Magnum Stenosis in an Infant With Achondroplasia
• Skeletal Dysplasia: A Case Report
• 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 Digital Atlas of Ancient Rare Diseases (DAARD) and its relevance for current research
• The evidence for achondroplasia in 1st century AD Italy
• The Treatment of Growth Disorders in Childhood and Adolescence
• Total hip arthroplasty in patients with common pediatric hip orthopedic pathology
• Total Knee Arthroplasty in Patients Who Have Skeletal Dysplasia: A Center's Experience with a Mean 9 Year Follow-Up
• Total Knee Arthroplasty in Patients Who Have Skeletal Dysplasia: A Center's Experience With a Mean 9-Year Follow-Up
• Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia
• Two Cases of Cardiovascular Adverse Events Following Subcutaneous Vosoritide Injection in Early Infancy
• Ultrasound-guided spinal anaesthesia in a patient with achondroplastic dwarfism and scoliosis: a case report
• 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 treatment for children with hypochondroplasia: a phase 2 trial
• Vosoritide, a miracle drug, covering unmet need in achondroplasia: A regulatory update
• What Is the Role for Pediatric Endocrinologists in the Management of Skeletal Dysplasias?