Disease: Severe achondroplasia with developmental delay and acanthosis nigricans
- <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<sup>Y367C</sup> <sup>/+</sup> 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>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>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?