Hip Dislocation With Femoral Short Neck in Spondyloepiphyseal Dysplasia Treated by Open Reduction and Valgus Osteotomy: A Case Report.

Robot-assisted resection of a large intrathoracic osteochondroma originating from the third rib in the context of hereditary multiple osteochondroma syndrome.

[Analysis of clinical features and genetic variants in a Chinese pedigree affected with Spondyloepiphyseal dysplasia type Ehlers-Danlos syndrome due to variants of B3GALT6 gene].

Case Report: Successful management of refractory SAPHO syndrome with guselkumab-upadacitinib combination.

Genotype-phenotype correlations in PSACH/EDM1 patients with COMP gene variants: a comprehensive review of 830 cases.

Denosumab in pediatric patients with fibrous dysplasia/McCune-Albright syndrome: a single-center, open-labeled study.

Intradural spinal bizarre parosteal osteochondromatous proliferation (BPOP): case report and review of the literature.

Uncommon Presentation of Osteochondroma in a Flat Bone of Left Iliac Blade Lesion: A Case Report.

Case Report: Developmental-like skeletal deformities and transient osteosclerosis as rare presentations of primary hyperparathyroidism.

Development of Muscle Function in Children with Achondroplasia Under Vosoritide Treatment: A Retrospective Single-Centre Observational Study.

METTL14 deficiency impairs chondrogenic differentiation via m6A-dependent TRAF4 mRNA regulation in Kashin-Beck disease.

Maternal decision-making through temporal uncertainties: The anticipatory biopolitics of Vosoritide in dwarfism communities.

METTL16 Modulates GPX4 Expression to Regulate Chondrocyte Ferroptosis.

A Complex Case of Langer-Giedion Syndrome, Cornelia de Lange Syndrome Type 4, and Hereditary Multiple Osteochondromas with Mosaic 8q23.1-q24.12 Deletion.

The Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations-Integrative Review.

Excess FGFR3 signaling in achondroplasia disrupts turnover of resting zone chondrocytes via CREB signaling.

[Inflammatory dermatosis in adult chronic non-bacterial osteomyelitis (adult CNO) from a dermatological perspective].

T1-T12 and T1-S1 Lengths at Maturity in Patients With Skeletal Dysplasia.

Identification and functional analysis of a novel TRAPPC2 intronic variant in a four-generation Chinese pedigree with SEDT.

Genetic Whispers in Hyperphosphataemic: Tumor Calcinosis in a 30-year-old.

Case Report: Upadacitinib for SAPHO syndrome with biologics-induced paradoxical manifestation and Hyperimmunoglobulinemia E.

A Unique Case of Asymptomatic Osteochondroma From the Rib in Multiple Hereditary Exostoses: Insights Into Screening and Management.

Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.

System biology and network-based approach to identify the therapeutic signatures and potential inhibitors against polycystic lipomembranous osteodysplasia with Sclerosing Leukoencephalopathy.

Bony adaptation signs are predictive of anterior head-neck offset remodeling after internal fixation for slipped capital femoral epiphysis: a multicenter study on 217 patients (228 hips) with follow-up until end of growth.

Contribution of hybrid imaging in benign osteopetrosis: A case report and literature review.

Robotic Arm-Assisted Total Knee Arthroplasty for Osteoarthritis Associated with Osteopetrosis: A Case Report.

Proximal femoral reconstruction for hip involvement in hereditary multiple exostoses.

Co-Occurrence of Osteogenesis Imperfecta Type III and Chronic Abruption-Oligohydramnios Sequence: A Case Report Suggesting a Possible Role of Type I Collagen Fragility.

[Hip disorders in children and adolescents-an overview].

Acute Phase Reaction After First Neridronate Infusion in Children with Osteogenesis Imperfecta: An Analysis Based on Questionnaire Data from 65 Patients.

Pressure-induced ossicular alterations in the oim mouse model of brittle bone disease do not cause hearing loss.

Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene.

Phenotypic Spectrum in Three Romanian Patients with 8q23-q24 Deletions.

Magnetically Controlled Intramedullary Compression Nailing for Femoral Nonunion in Osteogenesis Imperfecta: A Case Report.

Long-term outcomes of the modified Dunn procedure in moderate and severe slipped capital femoral epiphysis: a prospective case series with 7-year follow-up.

Clinicopathological analysis of osteofibrous dysplasia and adamantinoma: A single institution experience.

Practical guidance for clinicians to optimise orthopaedic outcomes in achondroplasia: International Achondroplasia Forum guiding principles.

Computed Tomography Analysis of Craniofacial Features in Japanese Patients With Cleidocranial Dysplasia.

[Clinical characteristics and prenatal diagnosis of a fetus with Short-rib thoracic dysplasia syndrome due to variants of DYNC2H1 gene].

Bilateral Distal Clavicle Osteochondromas in Langer-Giedion Syndrome Leading to Subacromial Impingement: A Case Report.

Atypical femoral fractures in a Mexican cohort of children and adolescents with osteogenesis imperfecta. Analysis of trajectories.

[Florid cemento-osseous dysplasia: A case report].

Case Report: Post-transplant lymphoproliferative disorder after kidney transplantation in a child with schimke immuno-osseous dysplasia.

[Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism].

[Key points of the International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with Achondroplasia].

In Individuals with Osteogenesis Imperfecta, Cephalometric Findings Suggest that Bisphosphonate Therapy May Improve Craniofacial Growth.

Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.

Multiexon COL1A2 deletion as a rare mechanism in osteogenesis imperfecta: Case report and literature review.

A C-Propeptide Variant in COL1A1 Potentially Perturbing Disulfide Bonding in Osteogenesis Imperfecta Type III.

[Familial florid cemento-osseous dysplasia with ANO5 mutation: a case report].

Multilevel Laminectomy for Lumbar Spinal Stenosis With Low Back Pain in Achondroplasia: A Case Report.

A New Perspective on Osteogenesis Imperfecta: From Cellular Mechanisms to the Systemic Impact of Collagen Dysfunction.

Metabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata.

Tracheobronchopathia osteochondroplastica: A rare case report.

Copy number variation: an important genetic mechanism in SMARCAL1-related immunoosseous dysplasia (Schimke type) in Indian patients.

[Genetic basis of chronic nonbacterial osteomyelitis].

Missense mutation of BMP1 may cause feline osteogenesis imperfecta without bone deformity.

An overview of the International Consensus Statement on achondroplasia.

Heritable metabolic bone disorders: a guide to current genetic testing and clinical management for adult endocrinologists.

A case report on the oral manifestations of Stüve-Wiedemann syndrome.

FSCN1 induces subchondral bone sclerosis in osteoarthritis via modulating actin cytoskeleton dynamics and YAP signaling.

Gαs variant detection discerns skeletal cell types involved in fibrous dysplasia pathogenesis.

Seropositive rheumatoid arthritis in osteogenesis imperfecta type XI (FKBP10 mutation): first case report and literature review.

Prenatal Diagnosis of Cartilage-Hair Hypoplasia: A Narrative Review.

The Sh3Pxd2bnee-/- mouse reveals developmental features of Frank-ter Haar syndrome.

Cartilage-hair hypoplasia in a patient with compound heterozygous variants in the RMRP gene: A case report.

Mutations in the Rab33b protein that lead to the skeletal disease Smith-McCort dysplasia result in unstable proteins and altered autophagy function.

Combined Melorheostosis and Osteopoikilosis: Uncommon Presentation with Sciatic Nerve Neuropathy: A Case Report.

Rare Variants in the P3H1 Gene in Patients With Osteogenesis Imperfecta of Bashkir Origin From Russia.

A rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescue.

Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I - A Case Report.

Pediatric triad of craniofacial fibrous dysplasia, Chiari malformation type I and syringomyelia: a case report.

Melnick-Needles Syndrome: Synthesizing Current Knowledge on Etiology, Clinical Presentation, Diagnostic Methods, and Potential Therapeutic Options.

Previously Unreported TMEM38B Variant in Osteogenesis Imperfecta Type XIV: A Case Report and Systematic Review of the Literature.

Elevated MMP9 Expression-A Potential In Vitro Biomarker for COMPopathies.

Boolean Networks with Classic and New Updating Modes Applied to Genetic Regulation in Some Familial Diseases.

Assessment of Collagen and Fibroblast Properties via Label-Free Higher Harmonic Generation Microscopy in Three-Dimensional Models of Osteogenesis Imperfecta and Ehlers-Danlos Syndrome.

Refractory/Relapsed Hodgkin Lymphoma in Cartilage Hair Hypoplasia-Anauxetic Dysplasia Spectrum: Long-term HSCT-free Remission in 2 Pediatric Siblings.

Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid.

Every bone tells a story: structured radiologic reporting of skeletal dysplasia.

Latent class analysis of quality of life among patients with Kashin-Beck disease and its association with health literacy and social support.

Cantu syndrome-associated SUR2[H60Y] mutation confers selective gain of function on Kir6.1 ATP-sensitive potassium channels.

The melorheostosis with severe knee and ankle deformity treated by total knee arthroplasty with V-Y quadricepsplasty: a case report and literature review.

Staged posterior fossa decompression and microvascular decompression for trigeminal neuralgia in autosomal dominant osteopetrosis type I: A case report.

Exfoliation of primary dentition in children with Osteogenesis Imperfecta medicated with bisphosphonates.

Real-world outcomes of vosoritide in achondroplasia: A systematic review and meta-analysis of multinational clinical evidence.

Novel FKBP10 Mutation in Iranian Patients with Osteogenesis Imperfecta: Insights from Whole-Exome Sequencing to Molecular Dynamics.

Effect of bisphosphonate treatment on the oim mouse middle ear ossicles' structure, composition and hearing.

Beyond papilledema: optic disc clues reveal coexisting Chiari I malformation and osteopetrosis-a case report and systematic review.

P08 A case of a 7-year-old female with SAPHO and CRMO treated successfully with IL-17A inhibitor after failure with Anti-TNFα biologic.

Expanding the literature on Cantú syndrome: recognising early clinical and phenotypic clues.

Oral health-related quality of life in patients with cleidocranial dysplasia: Impact of malocclusion traits and treatment modality.

Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.

Craniofacial and whole-skeleton fracture patterns in osteogenesis imperfecta: Findings from a nationwide U.S. insurance claims database.

Investigating factors affecting the incidence of tibial dyschondroplasia in meat-type poultry: A meta-analysis.

Double versus single fluoroscopy for screw fixation of slipped capital femoral epiphysis: does double fluoroscopy improve outcomes? A retrospective comparative study.

[Comprehensive considerations for the diagnosis, treatment, and management of osteogenesis imperfecta].

Gene Variants Characterize and Distinguish Osteochondromas in Patients With Hereditary Multiple Osteochondromas.

Effective front-line treatment of osteosclerotic myeloma with POEMS syndrome with daratumumab, lenalidomide and dexamethasone: a case report and literature review.

The Role of Osteoblasts in Phenotypic Variability of Dominant Osteogenesis Imperfecta: Evidence from Patients and Murine Models.

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health.

Genotype-based comparison of bone microstructure in adult patients with classical osteogenesis imperfecta.

Impaired SERPINF1 Expression due to c.[-37C>A];[829_831del] Causes Osteogenesis Imperfecta VI.

Matrix-directed therapy losartan to identify the effect on the bone resorption marker carboxy-terminal crosslink of type I collagen telopeptide (CTX) in older adolescents and adults with osteogenesis imperfecta recruited from secondary care sites: the 'MOI-A' study; a randomised, phase 2/pilot, dose-escalating trial.

Posterior decompression and spinous process reconstruction for lumbar spinal stenosis in a pediatric patient with achondroplasia: a case report.

Use of Analgesics in Osteogenesis Imperfecta in Denmark-A Nationwide Register-based Cohort Study.

Study on radiographic grading of ankle joint in adult patients with Kashin-Beck disease in Shaanxi and Gansu Province, China.

Upadacitinib in the treatment of SAPHO syndrome: a case report.

Efficacy and Safety of Oral Meclizine for Growth Promotion in Children with Achondroplasia: A Phase 2 Clinical Trial.

The Natural Course of Pain in Fibrous Dysplasia/McCune Albright Syndrome: A Prospective Follow Up Study.

Sarcopenia and Muscle Dysfunction in Osteogenesis Imperfecta: Insights from A Pilot Study.

99mTc-MDP Bone Scintigraphy in a Case of X-Linked Spondyloepiphyseal Dysplasia Tarda.

Successful Use of Haploidentical HSCT in a Child With Schimke Immuno-Osseous Dysplasia Who Developed PTLD After Kidney Transplantation.

Craniofacial fibrous dysplasia: a challenge for general dental practitioners.

Qualitative Research in Children and Parents of Children with Achondroplasia to Evaluate the Content Validity of Multiple Clinical Outcome Assessments.

[Diagnosis and treatment of chronic nonbacterial osteitis (CNO) and SAPHO syndrome : Implications of the current consensus recommendations of an international commission of experts for German rheumatology].

Senescent bone marrow mesenchymal stem cells exacerbate subchondral bone sclerosis and osteoarthritis via the senescence-associated secretory phenotype.

Bone-in-bone and sandwich vertebrae in a 6-month-old infant with genetically confirmed fatal osteopetrosis: A case report.

The GNAS Gene: Fibrous Dysplasia, McCune-Albright Syndrome, and Skeletal Structure and Function.

A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia.

Late diagnosis of hyperphosphatemic familial tumoral calcinosis in an adult male: lessons from a misclassified case.

Treatment of Pathological Femoral Fractures Caused by Fibrous Dysplasia Using the Bridging Combination Internal Fixation System: A Case Report.

T-2 toxin exacerbates chondrocyte extracellular matrix degradation potentially through YAP/NLRP3/GSDMD-mediated pyroptosis.

Identifying domains for CNO and SAPHO: A scoping review to create domains from existing outcomes by the OMERACT CNO and SAPHO working group.

Cemento-osseous dysplasia with concomitant cemento-ossifying fibroma: a rare case report.

Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4-Related Dysplasia.

Sex differences in joint pain, limb function and quality of life among patients with Kashin-Beck disease in Northwest China.

Benign fibro-osseous lesions of the cranio-maxillofacial bones: an updated review with special emphasis on molecular pathogenesis.

Once-Weekly Navepegritide in Children With Achondroplasia: The APPROACH Randomized Clinical Trial.

Physicians' perspectives on the diagnosis and treatment of adult SAPHO syndrome: a cross-sectional study from China.

miR-1737 targets TAK1 to mediate the BMP-Smad signaling pathway to regulate the molecular mechanism of chicken tibial chondrodysplasia.

FAM20C and FAM20A in normal and ectopic mineralization: A focus on oro-renal syndromes.

Sinonasal Tract Osteochondromyxoma: Future Directions Beyond Morphologic Description.

Real-world safety and age-dependent effectiveness of vosoritide in achondroplasia: A single-center retrospective analysis of transition from growth hormone to vosoritide.

[Clinical analysis of a patient of Short rib-polydactyly syndrome type 6 with long term misdiagnosis].

[Analysis of clinical characteristics and genetic etiology of a child with Osteopathia striata with Cranial sclerosis due to variant of AMER1 gene].

Unexpectedly high levels of normally spliced transcripts from the pathogenic SLC10A7 alleles in a recessive form of skeletal dysplasia.

An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl.

Melorheostosis: Clinical, radiological, and histopathological features with a literature review.

Preoperative Virtual Planning Combined with 3D-Printed Surgical Guide Technology for Correction of Shepherd's Crook Deformity: A Case Report.

Baseline Characteristics of the TOPaZ Study: Randomised Trial of Teriparatide and Zoledronic Acid Compared with Standard Care in Adults with Osteogenesis Imperfecta.

Young Adults With Achondroplasia, Self-Esteem, and Wellbeing: Examining the Impact of Dance Sessions and Augmented Dance Sessions.

Osteopetrosis misdiagnosed as congenital cytomegalovirus infection: A case report and literature review.

Anatomic assessment of palatal temporary skeletal anchorage devices insertion sites among patients with cleidocranial dysplasia vs controls: A retrospective cone-beam computed tomography analysis.

Feeding, Nutrition, and Physical Activity From the Perspectives of People With Skeletal Dysplasia in Australia and Norway: A Mixed Qualitative Methods Study.

Mesenchymal Stem Cell Transplantation for Osteogenesis Imperfecta Patients: A Systematic Review.

Exome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report.

Double jaw surgery for a patient with Gnathodiaphyseal dysplasia (GDD): A case report and literature review.

Assessment of dural involvement in calvarial and skull base fibrous dysplasia.

Palovarotene for patients with multiple hereditary exostosis: results of MO-Ped, a terminated, randomized, placebo-controlled, double-blind phase 2 trial.

Craniofacial fibrous dysplasia: Long-term postoperative outcomes in a retrospective case series with up to 40 years of follow-up.

Relationship between posteromedial distal femur exostosis and the course of the popliteal artery in patients with multiple cartilaginous exostoses.

Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis.

[Research progress in Runt-related transcription factor 2 regulation of bone remodeling and tooth eruption].

Misdiagnosed with spinal infection instead of SAPHO syndrome: a case report and literature review.

Quantitative assessment of the temporomandibular joints in patients with osteogenesis imperfecta: a CBCT study.

A probable case of multiple osteochondromas from an Early Medieval burial site in the Venetian lagoon (Italy): Differential diagnosis and review of cases from archaeological contexts.

An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.

Cochlear implantation in osteogenesis imperfecta: a case series on feasibility, challenges, and outcomes.

Revisiting Sex Differences in Multiple Hereditary Exostoses (MHE): A Comprehensive Retrospective Analysis of Patient Characteristics and Surgical Patterns.

Cardiovascular risk in achondroplasia: a systematic review.

Clinical and molecular characterization of chondrodysplasias in a cohort of Egyptian patients.

From Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.

Osteosclerosis and Meningioma: Implicating the Tumor Suppressor Gene AMER1/WTX.

Impacted second premolars in cleidocranial dysplasia: Three-dimensional position and morphology characteristics and factors affecting the success rate of closed eruption.

Treatment strategies for osteochondromas in the distal ulna - a multicentre comparative cohort study.

Treatment Decision-making in Madelung Deformity: A Retrospective Review of 74 Wrists.

Health-related quality of life in individuals with osteogenesis imperfecta in the United States: a cross-sectional study.

Surgical and anaesthesia decision making algorithms in patients with congenital spinal stenosis: a case report of awake endoscopic decompression in a patient with achondroplasia and literature review.

[Clinical features and variant spectrum of FGFR3-related disorders].

Body composition, anthropometry, and resting energy expenditure in adults with achondroplasia: a pilot study to determine best practices.

Slipped Capital Femoral Epiphysis: Rapid Evidence Review.

The SAPHO syndrome in diffuse sclerosing osteomyelitis of the mandible: an oral and maxillofacial surgery perspective.

Assessment of Deep Convolutional Neural Network Models for the Classification of Benign Fibro-Osseous Lesions of the Jaws.

Slipped Capital Femoral Epiphysis in a Case of Hyperphosphatemic Familial Tumoral Calcinosis: A Case Report.

The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review.

Constitutive activation of activin receptor-like kinase 3 in chondrocytes exacerbates skeletal dysplasia in mice with achondroplasia.

Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal Phenotypes.

[A case of osteopetrosis type Ⅱ presenting with anemia, splenomegaly, and thrombocytopenia].

New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri-Weill Dyschondrosteosis.

Distinguishing Low-Grade Chondrosarcoma and Osteochondroma Using Visible-Near Infrared Hyperspectral Spectral Characteristics.

Sinonasal Tract Osteochondromyxoma: An Underrecognized Tumor Easily Mistaken for Nasal Chondromesenchymal Hamartoma.

Ellis-van Creveld syndrome: skeletal dysplasia with associated hypoplastic left heart syndrome.

Rates and Pattern of Antifracture Drug Use in 6475 Adults and Children With Osteogenesis Imperfecta.

Effect of dense bone islands on orthodontic tooth movement and root resorption during space closure with fixed orthodontic appliances: A longitudinal study on panoramic radiography.

Total hip arthroplasty for diffuse skeletal fluorosis.

Bilateral Proximal Femur Interval Fractures with a Slipped Femoral Capital Epiphysis After Fixation: A Case Report.

Severe Osteoporosis in Larsen Syndrome-A Case Report of Bone Morphology and A Novel Filamin B (FLNB) Variant.

A Novel Premature Termination Codon Mutation in TRAPPC2 Is Associated with X-Linked Spondyloepiphyseal Dysplasia Tarda.

An ectopic Hedgehog signaling axis drives directional tumor outgrowth in a mouse model of hereditary multiple osteochondromas.

Muscle fatigue arising intrinsically from SUR2- but not Kir6.1-dependent gain-of-function in Cantu syndrome mice.

Exploring genotype-phenotype correlation of a novel SHOX gene splicing variant: Langer mesomelic dysplasia or idiopathic short stature.

Dentofacial Features in Schimke Immuno-Osseous Dysplasia: From Childhood to Adolescence.

Brachytelephalangic Chondrodysplasia Punctata Phenotype in Prenatally Diagnosed VKCFD1: A Novel GGCX Variant.

Involvement of patient organisations in research activities: actions taken and lessons learned in a clinical research study for osteogenesis imperfecta.

Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Development of a prediction model for lower limb deformity in patients with hereditary multiple exostoses based on interpretable models and nomogram.

Transcriptomic and Metabolomic Mechanism of Ibuprofen, Chondroitin Sulfate, and Vitamins With Minerals Tablets (21) for Kashin-Beck Disease Treatment.