• A 24-year-Old Male with Marden-Walker Syndrome and Epilepsy: Case Report
• A Case Report: Can Prioritizing Sensory Integration Therapy Help Improve Gross Motor Function in a Rare Case of Neurogenic Arthrogryposis Multiplex Congenita?
• A case report: New technique of proximal lengthening for treatment of injection induced rectus femoris muscle contracture
• A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder-Case Report
• A Mild But Typical Presentation of Bethlem Myopathy With a Novel In-Frame Deletion in <em>COL6A1</em>: Almost Overlooked
• A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C
• A monoallelic UXS1 variant associated with short-limbed short stature
• A novel compound heterozygous variant of <em>ECEL1</em> induced joint dysfunction and cartilage degradation: a case report and literature review
• A novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: A case report
• A novel missense variant in OTUD5 causes X-linked multiple congenital anomalies-neurodevelopmental syndrome
• A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly
• A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review
• A rare case of arthrogryposis multiplex congenita in a 2-year-old boy case report
• A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum
• Advances in revision surgery after primary total hip arthroplasty for Crowe type Ⅳ developmental dysplasia of the hip
• An International Retrospective Early Natural History Study of LAMA2-Related Dystrophies
• Anaesthesia management of a patient with Bethlem Myopathy for elective tonsillectomy: a case report
• Anatomical study of first palmar intermetacarpal flap in cadavers and application for congenital first web contracture in a child with Apert's syndrome
• Anophthalmic Socket
• Application of ultrasonography in diagnosis and treatment of children with congenital muscular torticollis
• Bethlem myopathy: A novel homozygous variant of c.385C&gt;T (p.Arg129Cys) in the COL6A2 gene
• Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis
• Biallelic <em>SOX8</em> Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction
• Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth
• Camptodactyly-arthropathy-coxa vara-pericarditis syndrome and an unusual association with mitral stenosis
• Case Report: New presentation of CLIFAHDD syndrome with a novel variant in the NALCN gene and a literature review
• Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort
• Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures
• Clinical characteristics and treatment analysis of three cases of congenital ulnar collateral flexor contracture of the forearm
• Clinical spectrum of congenital Zika virus infection in Brazil: Update and issues for research development
• Clinical use of cryopreserved ultra-thick human amniotic membrane for anophthalmic socket contracture
• Clubfoot
• Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy
• Comparative analysis of surgical treatment modalities for a popliteal pterygium: a meta-analysis
• Congenital Ankylosis of the Knee Treated with Van Nes Rotationplasty: A Case Report
• Congenital Contractures and Fractures: A Variant of Bruck Syndrome Type 2
• Congenital Dislocation of the Knee in the Delivery Room
• Congenital Femoral Deficiency
• Congenital Flexor Contracture of Ulnar Digits Masquerading as Volkmann Ischemic Contracture
• Congenital Insensitivity to Pain due to a de novo L369P mutation in the SCN11A gene with Heterotrophic Ossification - A Case Report
• Congenital Muscular Dystrophy Due to Merosin Deficiency: Report of a New Mutation
• Congenital Torticollis
• Correction of Congenital Ring-Little Finger Metacarpal Synostosis Through Simultaneous Interpositional Allograft Bone After Split Osteotomy of the Synostosis Site and Distraction Lengthening of the Fifth Metacarpal
• Corrective osteotomies around the knee joint using hexapods
• Developments in Hand Surgery: Experience from a Tertiary Hospital of Northern Bangladesh
• Discrepancies in clavicle-to-carotid bifurcation length measurements for transcarotid artery revascularization using different imaging modalities
• Early onset critically ill infants with Schaaf-Yang syndrome: a retrospective study from the China neonatal genomes project and literature review
• Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?
• Entropion Eyelid Reconstruction
• Epiphora
• ERBB3 deficiency causes a multisystemic syndrome in human patient and zebrafish
• FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations
• Features of Congenital Arthrogryposis Due to Abnormalities in Collagen Homeostasis, a Scoping Review
• Fetal Inguinal Hernia: Case Report and Review of the Literature
• Genetic models of fibrillinopathies
• Gradual Transverse Transport of Naturally Tibialized Fibula Using Hexapod Frames to Treat Neglected Type V Tibial Segmental Defects
• Heterogenic Genetic Background of Distal Arthrogryposis-Review of the Literature and Case Report
• High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects
• Highlighter: An optogenetic system for high-resolution gene expression control in plants
• Homozygous splice variant (c.1741-6G&gt;A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy
• Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy
• Hyaline Fibromatosis Syndrome: Early Outcomes Following Major Craniofacial Mass Excision
• Identification of four TTN variants in three families with fetal akinesia deformation sequence
• Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants
• Lethal multiple pterygium syndrome in a newborn, a case report
• Management of Axillary Contracture in Poland Syndrome: Differentiating Fibrous Band and Skin for Optimal Release
• Management outcome of congenital talipes equinovarus (clubfoot) using Ponseti protocol at Lagos University Teaching Hospital
• Musculoskeletal defects associated with myosin heavy chain-embryonic loss of function are mediated by the YAP signaling pathway
• Neonatal and infantile hypotonia
• New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients
• New clinical classification of stiff skin syndrome
• New presentation of CLIFAHDD syndrome with a novel variant in <em>NALCN</em> gene: A report of a rare case
• Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich-like congenital muscular dystrophy
• Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3
• Novel TTN Mutation Causing Severe Congenital Myopathy and Uncertain Association with Infantile Hydrocephalus
• Open reduction for hip dislocation in children with arthrogryposis multiplex congenital: Outcomes of a systematic review
• Optimizing Surgical Outcomes in Congenital Syndactyly: Evaluation of Flap and Graft Techniques in Older Pediatric Patients
• PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serin biosynthesis defect
• PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
• Postaxial polydactyly of the bilateral hand in toddler: Case report and literature review
• Presentation of Rare Phenotypes Associated with the <em>FKBP10</em> Gene
• Pterygium Syndrome
• Refining macrostomia correction: Case series applying square flap technique and Z/W-plasty skin closure for enhanced aesthetic and functional outcome
• Reproducibility matters: intra- and inter-sample variation of the point-of-care circulating cathodic antigen test in two <em>Schistosoma mansoni</em> endemic areas in Uganda
• Scar Hypertrophy Causing Nasal Obstruction Reconstruction
• Spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a Chinese child: A case report
• Spontaneous Resolution of Congenital Insufficiency of the Extensor Tendon Central Slip
• Surgical treatment of injection-induced rectus femoris muscle contracture in a child: A case report
• Term Neonate Born With Right Upper Extremity Skin Necrosis at Birth: A Case Report
• The Intrarater and Interrater Reliability of the OMT Classification Among Physicians With a Different Background
• The recurrent deep intronic pseudoexon-inducing variant <em>COL6A1</em> c.930+189C&gt;T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy
• Treatment of post-traumatic complete bony ankylosed elbow using total arthroplasty and hernia patch - A case report
• Tumour stage and overall survival in patients with intrahepatic cholangiocarcinoma and primary sclerosing cholangitis - a retrospective cohort study
• Unipolar myomectomy for congenital muscular torticollis: A retrospective study
• VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review
• Variants in <em>ACTC1</em> underlie distal arthrogryposis accompanied by congenital heart defects
• Variants in <em>KMT2A</em> in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome
• Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
• Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature
• Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2