Disease: Skeletal dysplasias
- A Case Report of Craniofacial Intraosseous Xanthoma in a Patient Seeking Facial Feminization Surgery
- A Case Series of Three Patients with Cleidocranial Dysplasia: Clinical Presentation and Diagnostic Considerations
- A Closer Look at Fibrous Dysplasia Femur Fracture Five-year Follow-up: A Unique Case
- A further case of chondrodysplasia with growth failure occurring after hematopoietic stem cell transplantation (HSCT)
- A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl
- A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia
- A novel termination site in a case of Stüve-Wiedemann syndrome: case report and review of literature
- A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia
- A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis
- Acquired Forms of Fibroblast Growth Factor 23-Related Hypophosphatemic Osteomalacia
- Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature
- Analytical methods for quantitating sulfate in plasma and serum
- Bariatric Surgery in Patients with Achondroplasia, a Feasibility Study of Two Case Studies
- Benign Hyperostosis of the Rib
- Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
- Case report: Refractory Evans syndrome in two patients with spondyloenchondrodysplasia with immune dysregulation treated successfully with JAK1/JAK2 inhibition
- Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a <em>CCDC47</em> variant
- Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China
- Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data
- Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants
- Comparative Assessment of Various Cephalometric Parameters Used for Determining Vertical Skeletal Dysplasia
- Congenital tibial pseudarthrosis: A challenge in pediatric radiology
- Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives
- Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria
- Desmoplastic fibroma in a child: a 9-year follow-up case report
- Detection of non-cardiac fetal abnormalities by ultrasound at 11-14 weeks: systematic review and meta-analysis
- Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients
- Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome
- Effects of modified twin block appliance in growing Class II high angle cases: A cephalometric study
- Embryonic development and transcriptomic analysis in red-eared slider Trachemys scripta elegans under salinity stress
- Fibrous dysplasia of the head and neck in Southern Finland: a retrospective study on clinical characteristics, diagnostics, and treatment
- Generation of heterozygous and homozygous NF1 lines from human-induced pluripotent stem cells using CRISPR/Cas9 to investigate bone defects associated with neurofibromatosis type 1
- Growth disorders caused by variants in epigenetic regulators: progress and prospects
- Hand Radiographs in Skeletal Dysplasia: A Pictorial Review
- Health-related quality of life and associated risk factors in patients with Multiple Osteochondromas: a cross-sectional study
- Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment
- Imaging in osteogenesis imperfecta: Where we are and where we are going
- In Vitro Modelling of Osteogenesis Imperfecta with Patient-Derived Induced Mesenchymal Stem Cells
- Incidence and management of secondary deformities after megaendoprosthetic proximal femur replacement in skeletally immature bone sarcoma patients
- Involvement of kinesins in skeletal dysplasia - a review
- Isolated Fibrous Dysplasia of the Bilateral Nasal Bones: Complex Management of the Bony Vault
- Lambdoid Suture Defect in a 12-year-old Neurofibromatosis Patient
- 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 non-steroidal anti-inflammatory drugs: a promising approach for the treatment of symptomatic bone marrow failure in Ghosal hematodiaphyseal dysplasia
- Macular hypoplasia and high myopia in 48, xxyy syndrome: a unique case of 48, xxyy syndrome that presents with high myopia and macular dysplasia
- Mandibular rhabdomyosarcoma with TFCP2 rearrangement and osteogenic differentiation: a case misdiagnosed as fibrous dysplasia or low-grade central osteosarcoma
- Modeling skeletal dysplasia in Hurler syndrome using patient-derived bone marrow osteoprogenitor cells
- Morphine exposure and prematurity affect flash visual evoked potentials in preterm infants
- Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions
- Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias
- Neonatal Ultrasound and Radiographic Markers of Hip Dysplasia in Young Adults
- New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia
- New Perspectives of Therapies in Osteogenesis Imperfecta-A Literature Review
- Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene
- Oral Health-Related Quality of Life in Italian Children and Adolescents Living with Bone Dysplasia: A Cross-Sectional Study
- Orthopedic manifestations in children with Prader-Willi syndrome
- Osteofibrous dysplasia: a narrative review
- Osteopetrosis in the pediatric patient: what the radiologist needs to know
- Overexpression of <em>Fgf18</em> in cranial neural crest cells recapitulates Pierre Robin sequence in mice
- Patellar osteochondritis dissecans: maturation-dependent patellofemoral joint characteristics
- Patho-morphology of patellar instability in children and adolescents: A systematic review and meta-analysis
- Pathogenic Gene Variants Identified in Patients Presenting With Perthes or Perthes-like Hip Disorder
- Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome
- PERK inhibition in zebrafish mimics human Wolcott-Rallison syndrome phenotypes
- Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia
- Progress in the relationship between GDF11 and depression
- Proteoglycan Dysfunction as a Key Hallmark of Intervertebral Disc Degeneration: Commentary on "Proteoglycan Dysfunction: A Common Link Between Intervertebral Disc Degeneration and Skeletal Dysplasia"
- Proteoglycan Dysfunction: A Common Link Between Intervertebral Disc Degeneration and Skeletal Dysplasia
- Ptip safeguards the epigenetic control of skeletal stem cell quiescence and potency in skeletogenesis
- RANKL inhibition reduces lesional cellularity and Galpha(s) variant expression and enables osteogenic maturation in fibrous dysplasia
- Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in <em>GRK2:</em> A Newly Associated Gene for Jeune Syndrome Phenotype
- Relative contributions of osteal macrophages and osteoclasts to postnatal bone development in CSF1R-deficient rats and phenotype rescue following wild-type bone marrow cell transfer
- Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report
- Renal Pathology of Ciliopathies
- RNA-based bone histomorphometry: method and its application to explaining postpubertal bone gain in a G610C mouse model of osteogenesis imperfecta
- Role of gene interactions in the pathophysiology of skeletal dysplasias: A case report in Colombia
- Root resorptions induced by genetic disorders: A systematic review
- Severe Multilevel Tracheal Stenosis with Significant Twisting in a Patient with Spondylometaphyseal Dysplasia: A Case Report
- Severe skeletal dysplasia caused by a novel FLNB gene mutation
- SGMS1 facilitates osteogenic differentiation of MSCs and strengthens osteogenesis-angiogenesis coupling by modulating Cer/PP2A/Akt pathway
- Skeletal abnormalities caused by a Connexin43(R239Q) mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia
- Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia
- Spinal Manifestations of Skeletal Dysplasia: A Practical Guide for Clinical Diagnosis
- Sulfate: a neglected (but potentially highly relevant) anion
- 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
- The Influence of Neurotrophins on the Brain-Lung Axis: Conception, Pregnancy, and Neonatal Period
- Three-Dimensional Modeling and Quantitative Assessment of Mandibular Volume in Ectodermal Dysplasia: A Case Series
- Total hip arthroplasty in patients with common pediatric hip orthopedic pathology
- Transcriptomic signature and pro-osteoclastic secreted factors of abnormal bone marrow stromal cells in fibrous dysplasia
- Treatment of an anterior cervicothoracic myelomeningocele together with spine deformity correction in a child: illustrative case
- TRPV4-dependent Ca<sup>2+</sup> influx determines cholesterol dynamics at the plasma membrane
- Unlocking the Enigma: Investigating I-Cell Disease in a Newborn Through Placental Pathology
- Unveiling the Chaos in Postural Control in Adults with Achondroplasia
- Using MRI derived observed to expected total lung volume to predict lethality in fetal skeletal dysplasia
- Weyers Acrofacial Dysostosis: A Case Report
- Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement
- Xenopus tropicalis osteoblast-specific open chromatin regions reveal promoters and enhancers involved in human skeletal phenotypes and shed light on early vertebrate evolution
- Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome