Clinical and molecular landscape of skeletal ciliopathies across prenatal and pediatric cohorts with assessment of oxidative stress markers.

Clinical and genetic basis of congenital gonadotropin deficiency.

Multistage orthodontic-implantology-prosthetic treatment of a patient diagnosed with hypohidrosis ectodermal dysplasia syndrome with EDAR mutation: a case report.

Preoperative Considerations for Uterine Fibroid Removal in Patients With Mayer-Rokitansky-Küster-Hauser Syndrome and Klippel-Feil Syndrome: A Case Report.

Overcoming Complexity: Percutaneous Embolization for Hepatic Artery Pseudoaneurysms in Hereditary Hemorrhagic Telangiectasia (HHT).

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

The pathogenic ADAMTSL2 D167N variant causes geleophysic dysplasia-like connective tissue changes in mice.

Genotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: a retrospective study of a French cohort.

A potential impact of Helicobacter pylori-related metabolic syndrome on the course of high-grade dysplasia in Barrett's esophagus.

The 10- to 23-Year Outcomes of Cemented Total Hip Arthroplasty Utilizing Impaction Bone Grafting for Severe Acetabular Bone Defects in Osteoarthritis and Rheumatoid Arthritis.

Meckel-Gruber syndrome: a rare and fatal congenital disorder (case report).

Efficacy of Denosumab for Treatment of Pain in Fibrous Dysplasia and McCune-Albright Syndrome: A Systematic Review.

A Twist1-regulated distal enhancer crucial for Alx1 gene expression and function during craniofacial development.

Elevated Driving Pressure in Pressure-Controlled Ventilation: An Independent Risk Factor for Adverse Outcomes in Mechanically Ventilated Neonates.

A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny-Caffey syndrome type 2.

Tönnis Grade 1 Is Associated With Higher Total Hip Arthroplasty Conversion Than Tönnis Grade 0 at 10-Year Follow-Up After Hip Arthroscopy for Femoroacetabular Impingement Syndrome: A Propensity-Matched Cohort Analysis.

First reported case of developmental dysplasia of the hips in a child with 3M syndrome: a case report.

Hidden morphological clues in deceptive bone marrow pathologies.

AAV Gene Therapy for MPS IVA with Induction of Immune Tolerance via Oral Administration of Epitope Peptides of N-Acetylgalactosamine-6-sulfate Sulfatase.

Insights into Accelerated MRI Protocols for Pediatric Brain Assessment in Emergency Cases.

Health-Related Quality-of-Life and its Determinants After Acute Coronary Syndrome Caused by Spontaneous Coronary Artery Dissection.

Bilateral Clubfoot in Nail-Patella Syndrome: A Rare Syndromic Case Successfully Treated with the Ponseti Method.

[Clinical phenotype and genetic analysis of a fetus with abnormal development due to a rare paternal t(10;14)(p11.2;p11) translocation].

[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].

[Clinical phenotype and genetic analysis of a child with CAKUTHED syndrome due to variant of PBX1 gene].

[Application of SNP linkage-based PGT-M to block the transmission of EFNB1 deletion in a Chinese family affected with Cranio-facial-nasal syndrome].

Cardioacrofacial dysplasia 1: a case report and literature review.

Diagnostic reassessment in patients previously diagnosed with childhood-onset epilepsy during the transition to adult care: A retrospective cohort study in a tertiary epilepsy center.

The Value of Cord Blood CXCL10 and MMP8 as Biomarkers in Predicting Bronchopulmonary Dysplasia- A Retrospective Cohort Study.

European Consensus Guidelines on the Management of Respiratory Distress Syndrome - 2025.

High-Frequency Oscillation vs Mechanical Ventilation for Neonatal Acute Respiratory Distress Syndrome: A Randomized Clinical Trial.

Marked regression of calcinosis with canakinumab in hyperphosphatemic familial tumoral calcinosis.

A Novel Homozygous CUL7 Variant in an Iranian Patient Expands the Genetic Spectrum of 3 M Syndrome.

A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.

Comparison of traditional and new treatments for fibrous dysplasia: a systematic review and meta-analysis.

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

Exploring the clinical and genetic spectrum of Steel syndrome: two case reports and review of the literature.

Anesthetic management of a patient with McCune-Albright syndrome complicated by pathological cervical fracture: a case report.

Morphological Changes in Femoral Trochlea After Extensor Realignment Surgery in Children With Congenital Patellar Dislocation.

Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.

Compressive Coronary Hematoma in an Elderly Woman Receiving Oral Anticoagulation Treated With Cutting Balloon Fenestration.

Case Report: Dominant deafness-onychodystrophy syndrome and hypokalemic periodic paralysis in a single patient: a rare syndromic overlap.

Clinical Presentation and Long-Term Outcomes of Prune Belly Syndrome in a Tertiary Hospital.

Drying Very Preterm Infants Before Plastic Wrapping at Birth: A Randomized Clinical Trial.

Impact of timing from last dose of dexamethasone administration to delivery, different steroid courses, and fetal number on preterm neonatal outcomes.

Fibrous Dysplasia Meets Intramuscular Myxoma: Mazabraud Syndrome-First Documented Case in Pakistan.

Case Report: Spontaneous coronary artery dissection and ventricular fibrillation cardiac arrest -treatment dilemma of whether to place an implantable cardioverter defibrillator.

Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.

Diffuse Extra-Thoracic Vascular Disease in Nonsyndromic Thoracic Aortic Aneurysm and Dissection.

Unexpected severe hypercalcemia in a 6-year-old child with hypoparathyroidism and feeding difficulties.

Early lung ultrasound score combined with umbilical cord-blood procalcitonin improves 1-year prognostic stratification in preterm neonates with respiratory distress syndrome.

Electrical Activity of the Diaphragm (Edi) Metrics in Premature Infants Receiving Invasive Mechanical Ventilation Versus Noninvasive Respiratory Support.

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

Dysplastic Transformation in Sporadic Fundic Gland Polyps: Prevalence, Clinical and Endoscopic Characteristics in an Asian Cohort.

Otopalatodigital Syndrome Type 2: A Case Report.

Prevalence of Intracranial and Cervical Artery Abnormalities in Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Presenting to an Academic Headache Clinic.

Effects of anti-RANKL, Zoledronate or combination therapy in a mouse model of fibrous dysplasia: a preclinical study.

Clinical Characteristics and Management of Two Cases of Complete Androgen Insensitivity Syndrome With Germ Cell Tumors.

Changes in the 6th edition of the World Health Organization classification of tumours of the digestive system.

Angiogenic factors and fetal Doppler for predicting adverse pregnancy outcome in early-onset small fetuses with and without pre-eclampsia.

Morphologic findings and mutational profiles of myelodysplastic neoplasms with normal versus abnormal karyotype.

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

KD-SqueezeNet: an efficient deep learning strategy for the multi-task diagnosis of neonatal lung diseases.

Orthopedic manifestations and management of nail-patella syndrome: a narrative review.

Exome findings in children with short stature evaluated by growth hormone stimulation testing.

Combined Immunodeficiency Associated With MAP2K1 p.Tyr130His Variant in Cardiofaciocutaneous Syndrome: A Case Report With Literature-Based Phenotypic Comparison.

Aplasia cutis congenita of the scalp with skull defect: an individual patient data systematic review of clinical features and treatment approaches.

Prevalence of femoroacetabular impingement syndrome and related hip morphologies, and its developmental dose-response relationship in professional female football players: a multicentre cohort study (PROFE).

Medication-related osteonecrosis of the jaw in patient with McCune-Albright syndrome: A rare case report.

Osteopathia striata with cranial sclerosis, associated with juvenile idiopathic arthritis: A case report and review of literature.

A Review of Pediatric Orthopedic Disorders: Diagnosis and Treatment Updates.

Genetic Syndromes Associated With Congenital Upper Limb Differences.

The PERK inhibitor GSK2606414 evokes developmental defects in zebrafish consistent with Wolcott-Rallison syndrome phenotypes.

Mazabraud Syndrome: The Contribution of Interventional Physiatry in a Clinical Case With 10 Years of Evolution.

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

Risk Factors of Proximal and Distal Advanced Colorectal Conventional and Serrated Neoplasia in Adults Younger Than 50 Years of Age.

Semicircular canal aplasia: radiologic spectrum and clinical correlations on computed tomography and magnetic resonance imaging.

[Analysis of clinical diagnosis, treatment, and pathogenic variants of hypoparathyroidism- sensorineural deafness-renal dysplasia (HDR) syndrome].

Corrigendum to "Nuclear receptor coactivator 4 linked to follicular dysplasia in polycystic ovary syndrome: A key regulator that aggravates ovarian granulosa cells ferritinophagy and ferroptosis" [Biochim Biophys Acta Mol Basis Dis. 1871 (7) (Oct 2025) 167955 (BBADIS 167955)].

Saul Wilson Syndrome: A Case Report With New Features in Saudi Arabia.

McCune-Albright Syndrome: A Case Series.

Elective HFOV vs CMV as Early Intervention: A Clinical Trial in Neonates with Acute Respiratory Distress Syndrome.

Optimizing Surgical Management of Craniofacial and Orbital Fibrous Dysplasia: A Multi-Center Retrospective Study.

[Chinese expert consensus on the clinical application of next-generation sequencing technology in myelodysplastic neoplasms (2026)].

Pregnancy-related spontaneous coronary artery dissection: insights from the SCAD-POL registry and a literature review.

Loss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia.

Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation.

Evolutionary trajectories of myelodysplastic syndromes/neoplasms.

The current state of paediatric intestinal transplantation: A global review.

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].

[Clinical and genetic analysis of two children with Knobloch syndrome due to variants of COL18A1 gene].

Early-onset preeclampsia: gestational age threshold of potential benefits.

Prevalence, clinical profile, and associated anomalies with women with Mayer-Rokitansky-Küster-Hauser syndrome in a tertiary care center: A cross-sectional study.

Proportion and characteristics of bone marrow dysplasia in advanced HIV infection.

Adjunctive cannabidiol in intractable pediatric epilepsy: A retrospective study on tolerability, efficacy, and safety across genetic and nongenetic etiologies.

Total Nasal Reconstruction Redefined: Classic Craft Meets Microsurgical Innovation.

Marfan Syndrome-Comprehensive Dental/Surgical Management: Clinical Case Report.

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

The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature.

Allogeneic Hematopoietic Cell Transplantation for Morquio A Syndrome: An International Retrospective Study.

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

Desaturations with or without Bradycardia Are Associated with Cerebral and Abdominal Hypoxemia: Secondary Analysis of a Randomized Clinical Trial.

Addressing the unmet challenge of pain in rare bone diseases: new insights from the RUDY UK registry.

Cutting Balloon Angioplasty for Resistant Pediatric Renal Artery Stenosis: A Single Institutional Experience.

Genetic Analysis of Prenatal Renal Abnormalities in 17q12 Microdeletion Syndrome.

Human inborn errors of the alternative NF-κB pathway.

A Case of FAM111A-Associated Kenny-Caffey Syndrome Type 2 with New Clinical Features: Microtia, Lacunar Skull Appearance, and Arnold-Chiari Malformation.

Septo-Optic-Pituitary Dysplasia Is a Clinical Syndrome, Not a Neuropathological Entity: An Autopsy-Based Study.

Atypical Histopathological Findings in an Epilepsy Surgery Case of Sturge-Weber Syndrome With Coexisting Developmental Venous Anomaly.

Non-Invasive Surfactant Administration in Preterm Infants.

Diagnostic pitfalls of ESA-resistant anemia due to functional copper deficiency in a dialysis patient: a myelodysplastic syndrome mimic.

The Effect of Vitamin A and Retinol-Binding Protein Levels in Cord Blood of Very Low Birth Weight Infants on Mortality and Morbidity.

A rare case of supinator syndrome caused by osteofibrous dysplasia of the radius.

Persistent monosomy 7 in Philadelphia chromosome-negative cells without disease progression over nearly two decades of follow-up in chronic myeloid leukemia.

The anterior cervical approach in pediatric patients: indications and outcomes.

Utilization of integrated lung ultrasound and targeted neonatal echocardiography in preterm infant follow-up: is it feasible? Assessing value and practical challenges.

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

Validation of a new Japanese classification for predicting severe bronchopulmonary dysplasia in preterm infants.

Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.

Cowden Syndrome in Childhood: Gastrointestinal Involvement in a Multisystem Genetic Disorder-A Case Report.

Rare Dual Genetic Diagnosis of Wiskott-Aldrich Syndrome and Ghoshal Hematodiaphyseal Dysplasia: Clinical, Diagnostic, and Management Challenges.

Resolution of generalized tonic seizures following focal ablative or resective surgery.

Is the Hip Located? What is the Value of Advanced Imaging at the Time of Spica Exchange for Infantile Hip Dysplasia?

Development and validation of a nomogram to predict bronchopulmonary dysplasia in very preterm, very low birth weight infants.

Impact of Mutational Landscape and Burden on RBC Transfusion Response in Patients With Lower-Risk Myelodysplastic Syndromes (LR-MDS) in the COMMANDS Study.

Borderline Hip Dysplasia Not Associated With Significant Differences in Hip Survivorship or Patient-Reported Outcomes After Primary Hip Arthroscopy for Femoroacetabular Impingement Syndrome: A Propensity-Matched Cohort Study With Minimum 10-Year Follow-up.

Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.

Long-term Outcomes of Advanced Arthroscopic Techniques for Patients With Acetabular Retroversion Without Anteverting Periacetabular Osteotomy.

Prenatal Shwachman-Diamond Syndrome: Diagnostic Challenges in Two Unrelated Cases With a Rare Clinical Presentation and Pseudogene Interference, and a Review of the Literature.

International guideline on genetic testing of children with short stature.

Rare Coexistence of Myelodysplastic Neoplasm and CD4 T-cell Lymphoproliferation.

Inferior Clinical Outcomes and Increased Conversion to Total Hip Arthroplasty Following Hip Arthroscopy for Femoroacetabular Impingement Syndrome in Patients With Inflammatory Joint Disease: A Minimum 5-Year Matched Cohort Study.

Fossa-Foveolar Mismatch Is Highest in Dysplastic Hips and During External Rotation.

Aortoiliac and superior mesenteric artery narrowing and calcification in Singleton Merten syndrome.

De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalings.

The Role of Iron-Overloaded Macrophages in Mesenchymal Stem Cell Senescence and Anemia in Myelodysplastic Syndromes: Protocol for an In Vitro Study.

Dandy-Walker syndrome with hydrocephalus undergoing VPS or CPS? A single-center retrospective study.

Total hip replacement in Klippel-Trenaunay syndrome with massive AV Malformations. A Case report.

Novel Genetic Findings in Stuve-Wiedemann Syndrome: A Case Report and Review of Literature.

Respiratory Physiotherapy in Preterm Neonates with Bronchopulmonary Dysplasia or Respiratory Distress Syndrome: A Comprehensive Review of Clinical Evidence and Therapeutic Implications.

Adams-Oliver Syndrome: A Comprehensive Literature Review of Clinical, Nutritional, Genetic, and Molecular Aspects with Nursing Care Considerations.

THE RELATIONSHIP BETWEEN CONNECTIVE TISSUE DYSPLASIA AND OSTEOPENIA IN CHILDREN.

McCune-Albright Syndrome as a Rare Cause of Fanconi Syndrome and Kidney Failure: A Case Report and Literature Review.

Burosumab treatment for FGF23-related hypophosphatemia in a two-year-old girl with McCune-Albright syndrome.

Improvement in post-hemispherotomy cerebral salt-wasting syndrome following intubation: A case report.

Variant phenotypic expression of mosaic Turner syndrome with type II MRKH (MURCS association).

Phenotypic Expansion of Autosomal Dominant SREBF1-Related Ichthyosis Follicularis, Atrichia, Photophobia: It Is in Fact the Same Condition as Hereditary Mucoepithelial Dysplasia.

Hip Microinstability: Current Concepts in Diagnosis, Surgical Management, and Outcomes A Narrative Review.

The relationship of p50 with clinical outcomes in ventilated preterm infants.

Long-term Stable Unilateral Mandibular Deformity Associated With Ipsilateral Skull-base Soft-tissue Lesion and Degenerated Pterygoid Muscles in Neurofibromatosis Type 1.

Effectiveness and feasibility of orogastric tube for surfactant delivery in moderate or very preterm neonates with respiratory distress syndrome: an open-label randomized controlled trial.

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

Midterm Outcomes in Patients Aged 40 Years and Older With Borderline Dysplasia After Hip Arthroscopy for Femoroacetabular Impingement: A Propensity-Matched Analysis.

Aplasia Cutis Congenita and Congenital Heart Disease: A Case Report, Highlighting the Limitation of Antenatal Screening.

Malignant Transformation of Musculoskeletal Lesions with Imaging-Pathology Correlation-Part 1: Bone Lesions.

Oxidant Stress, Hyperoxia/Hypoxia and Neonatal Respiratory Disorders.

KDM2B-Related Neurodevelopmental Disorder A Case-Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features.

[National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician].

[Clinical and genetic analysis of a child with X-linked Hoyeraal-Hreidarsson syndrome due to variant of DKC1 gene and a literature review].

Bathrocephaly and Serpentine Fibula as Underrated Features of Osteogenesis Imperfecta Type I: A Case Report.

Repurposing osteoporosis medications for other diseases: a narrative review by the European Calcified Tissue Society (ECTS).

Isotretinoin-related adverse sexual and reproductive outcomes: a real-world pharmacovigilance study of the FDA Adverse Event Reporting System (FAERS).

Peutz-Jeghers Syndrome With Malignant Transformation in a Hamartomatous Rectal Polyp: A Case Report.

A case and review of fibroblast growth factor-23-mediated hypophosphatemic osteomalacia in the absence of pathogenic PHEX variants.

Therapeutic p63 isoform switching rescues epidermal defects in AEC syndrome.

Diagnostic Challenges in a Young Man with a Suspected Mast Cell Disorder, Dysplastic Bone Marrow Morphology, and a ZRSR2 Mutation.

Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management.

Isolated KRAS and NRAS mutations in adults with monocytosis and/or cytopenia(s).

Significant improvement of neurological and radiological findings caused by multiple lateral meningocele by cyst-subarachnoid shunt in a 6-year-old boy: case report.

Spontaneous Coronary Artery Dissection: Case Series and Review of Associated Cardiovascular Risks.

Efficacy of pulmonary surfactant with budesonide in infants born at or less than 28 weeks' gestation: a systematic review and meta-analysis.

Neonatal respiratory care in Vietnam: surfactant use and clinical practices in a large neonatal intensive care unit.

Poretti-Boltshauser Syndrome in a Toddler: Novel Neuroimaging Features and Clinical Presentation.

Case Report: A case of Fraser syndrome 2 in a Chinese fetus caused by novel compound heterozygous variants in the FREM2 gene.

Delayed Diagnosis of McCune-Albright Syndrome in Adulthood Revealed by Spinal Fibrous Dysplasia: Report of 2 Cases.

Clinical features and treatment of methylmalonic acidemia complicated with Dandy-Walker syndrome: a report of four cases and review of literature.

Development and validation of a pre-trained language model for neonatal morbidities: a retrospective, multicentre, prognostic study.

Megacystis-Megacolon-Intestinal Hypoperistalsis Syndrome with Intestinal Neuronal Dysplasia: Expanding the Phenotypic Spectrum.

P18 ZMPSTE24 variant with the lethal phenotype of restrictive dermopathy.

Diaphragm dysfunction and interstitial lung disease in a preterm infant.

LSKL mitigates dehydroepiandrosterone-induced apoptosis and oxidative stress by THBS1/PI3K/AKT pathway in rat granulosa cells.

Immature platelet fraction and bone marrow findings in hematology.

Noncirrhotic Portopulmonary Hypertension Due to Hepatoportal Sclerosis in Adams-Oliver Syndrome.

[Development of dynamic multi-time-point clinical prediction models for bronchopulmonary dysplasia in preterm infants with gestational age < 32 weeks].

Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype-phenotype trends and novel GALNS variants.

Dandy-Walker syndrome linked to amelia, genu recurvatum, haemangioma, complex congenital heart defects, schizencephaly, and dyslipidaemia: a case report.

Therapy related myelodysplastic syndrome: a hematologic sequela of low dose methotrexate in rheumatoid arthritis.

A pediatric autopsy case of Goldston syndrome: A rare case report.

Posterior Reversible Encephalopathy Syndrome With Spinal Cord Involvement: A Case Report and Literature Review.

Myasthenia Gravis in a Child With Schimke Immuno-Osseous Dysplasia: A Case Report.

Pouch excision, dysplasia and polypectomy in familial adenomatous polyposis ileal pouch anal anastomosis: a retrospective analysis.

U0126 induces osteoclast differentiation via the p38-NFATc-1 signaling pathway.

Spontaneous Coronary Artery Dissection in a Lactating Mother Three Years Postpartum: A Rare Case Report.

[A case of pulmonary alveolar proteinosis secondary to GATA2 deficiency combined with splenic M. kansasii infection and literature review].

No Regression With Imatinib Treatment for Craniofacial Fibrous Dysplasia Associated With McCune-Albright Syndrome.

Severe cardiac valvular calcification in two Chinese brothers with mandibuloacral dysplasia type A: a case report.

Unmasking Secondary Hypertension: Renal Artery Stenosis Concealing the Diagnosis of Primary Hyperaldosteronism.

A Novel EIF2AK3 Variant Causing Wolcott-Rallison Syndrome With Early Neonatal Diabetic Ketoacidosis as Initial Presentation: A Case Report.

Lung function and sleep-disordered breathing in preschoolers born very preterm.