• <em>PTPN11</em> and <em>FLNA</em> variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features
• A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024
• A genetic mouse model mimicking MET related human osteofibrous dysplasia is characterized by delays in fracture repair and defective osteogenesis
• A Mathematical Model for Fibrous Dysplasia: The Role of the Flow of Mutant Cells
• A Modified 4-in-1 Stanisavljevic Procedure for Treating Obligatory or Congenital Patellar Dislocations in Children: A Surgical Technique
• A monoallelic UXS1 variant associated with short-limbed short stature
• A novel adapted MRI-based scheme for Dejour classification of trochlear dysplasia
• A Rare Case of Cleidocranial Dysplasia Causing Unilateral Lung Herniation in the Setting of an Acute Viral Infection
• A Rare Case of Fibrous Dysplasia Presenting With Facial Swelling and Craniofacial Deformity in a 13-Year-Old Girl
• A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
• Adolescent female reproductive system dysplasia: a clinical study of 356 cases
• Anesthetic dilemmas in an achondroplastic patient undergoing elective cesarean section
• Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda
• B-cell immune deficiency in twin sisters expands the phenotype of MOPDI
• Bone matrix properties in adults with osteogenesis imperfecta are not adversely affected by Setrusumab - a sclerostin neutralizing antibody
• Calvarial bone graft for craniovertebral junction fixation in children
• Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report
• Case report: Ghosal hematodiaphyseal dysplasia-A rare cause of skeletal dysplasia and cytopenia
• Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis
• Chromatin profiling identifies chondrocyte-specific Sox9 enhancers important for skeletal development
• Clinical and genetic investigation of 14 families with various forms of short stature syndromes
• Clinical and Radiological Insights of Cleidocranial Dysplasia: A Case Report of a Rare Medical Condition
• Clinico-Radiological Perspectives of Pycnodysostosis - A Rare Case Series
• Combined clinical, structural, and cellular studies discriminate pathogenic and benign TRPV4 variants
• Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction
• Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in Australia
• Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia
• Conservative Approach to Type III Ulnar Club Hand: Case Report
• DDX58 variant triggers IFN-β-induced autophagy in trabecular meshwork and influences intraocular pressure
• Debilitating Musculoskeletal Disease in Two Free-Ranging Juvenile American Black Bears (<em>Ursus americanus</em>)
• Deciphering the pathogenic role of rare <em>RAF1</em> heterozygous missense mutation in the late-presenting DDH
• Delayed diagnosis of mild mucopolysaccharidosis type IVA
• Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice
• Distinctiveness of Femoral and Acetabular Mesenchymal Stem and Progenitor Populations in Patients with Primary and Secondary Hip Osteoarthritis Due to Developmental Dysplasia
• Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities
• Double crown removable partial denture for a patient with ectodermal dysplasia: A clinical report after 31 years
• Effects and Safety of Growth Hormone Treatment in Six Children with Pycnodysostosis
• ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia
• Evaluation of dental manifestations in X-linked hypophosphatemia using orthopantomography
• Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant
• Fetal Skeletal Dysplasia
• Fibronectin Isoforms Promote Postnatal Skeletal Development
• Fibrous dysplasia: A tale of two syndromes
• First copy number variant in trans with single nucleotide variant in CCN6 causing progressive pseudorheumatoid dysplasia revealed by genome sequencing and deep phenotyping in monozygotic twins
• Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2
• Gait characterization in rare bone diseases in a real-world environment - A comparative controlled study
• Genetic analysis of a fetus with Rhizomelic skeletal dysplasia
• Genetic Anomalies in Pediatric Orthopedics: A Case Study of a New Rare Sporadic Mutation of Osteogenesis Imperfecta
• Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review
• Guided growth surgery for angular deformity of the knee: one centres experience
• Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II
• Hip Dysplasia in a Context of Blue Rubber Bleb Nevus Syndrome, 5-years Follow-up after Hip Arthroplasty
• Identification and properties of TRPV4 mutant channels present in polycystic kidney disease patients
• Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes
• Incidence of risk factors in developmental dysplasia of the hip: a retrospective study on 18,954 cases
• KIF22 regulates mitosis and proliferation of chondrocyte cells
• Laparoscopic herniorrhaphy for inguinal hernia with thanatophoric dysplasia: A case report
• Latent metabolic bone disease, skeletal dysplasia and other conditions related to low bone formation among 38 patients with subtrochanteric femoral fractures: a retrospective observational study
• Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings
• Loss of ninein interferes with osteoclast formation and causes premature ossification
• Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
• Lumbar Epidural versus Caudal Epidural for Postoperative Analgesia After Lower Extremity Osteotomy Surgery in Pediatric Patients with Osteogenesis Imperfecta: A Propensity-Matched Cohort Analysis in a Single-Center Over 9 Years
• Macrocephaly and Finger Changes: A Narrative Review
• Metaphyseal anadysplasia type 1: Familial and regressive rickets manifestation
• Molecular analysis of 31 cases with fetal skeletal dysplasia
• Molecular therapy and nucleic acid adeno-associated virus-based gene therapy delivering combinations of two growth-associated genes to MPS IVA mice
• Multi-omics analyses reveal aberrant differentiation trajectory with WNT1 loss-of-function in type XV osteogenesis imperfecta
• Multiparametric whole-body MRI of patients with neurofibromatosis type I: spectrum of imaging findings
• NANS-CDG: Expanding clinical insights with a novel patient with novel variants
• Navigating challenges: Cleidocranial dysplasia and complexities in transvenous pacemaker implantation
• Neurofibromatosis Type 1-Retinal Alterations Detectable with Optical Coherence Tomography Angiography
• Nomogram for fetal limb bones in Chinese ethnicity
• Novel <em>LOXL3</em>-associated stickler syndrome-like phenotype: a case report
• Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology
• Orthodontic findings and treatment need in patients with amelogenesis imperfecta: a descriptive analysis
• Outcomes after completing growth-friendly surgical treatment for early-onset scoliosis in patients with skeletal dysplasia
• Prenatal diagnosis of a skeletal disorder characterized by rhizomelic shortening of limbs caused by compound heterozygous variants in the PKDCC gene: Case report and literature review
• Prenatal diagnosis of cleidocranial dysplasia: Case report on two cases with a negative family history
• Prevalence of trochlear dysplasia in an 1162 retrospective cohort study using CT scans
• Radiological manifestations of nail-patella syndrome in a 56-year-old female: A case report
• Regulation of TGF-β/BMP signaling during osteoblast development by non-coding RNAs: Potential therapeutic applications
• Ribbing disease of the femur: a rare entity
• SIADH as a Rare Complication of Foramen Magnum Stenosis in an Infant With Achondroplasia
• Skeletal indicators of pathology in the context of early tooth loss in children: A systematic literature review
• Skeletal overgrowth in a pre-pubescent child treated with pan-FGFR inhibitor
• Spondyloenchondrodysplasia With Immune Dysregulation, but Without Skeletal Dysplasia, in a Six-Year-Old Boy: A Case Report
• Surgical Considerations for Minimally Invasive Gynecologic Surgery in Patient with Skeletal Dysplasia
• The expanding clinical and genetic spectrum of DYNC1H1-related disorders
• The Reliability of Ultrasound Markers in Identifying Fetuses With a Life-Limiting Skeletal Dysplasia
• Three-dimensional evaluation of dental characteristics in patients with Cleidocranial dysplasia
• Total Hip Arthroplasty in Dyggve-Melchior-Clausen Syndrome: Literature Review and Case Report
• 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
• Translation and validation of the French version of the child perceptions questionnaire for children aged 11 to 14 years old (CPQ11-14) short-form
• Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder
• Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?
• Update on the Genetics of Osteogenesis Imperfecta
• Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects
• Victor McKusick: Father of Medical Genetics and his Impact on Orthopaedics
• Vosoritide treatment for children with hypochondroplasia: a phase 2 trial