Disease: Dysostosis
- "I can't provide what my child needs": Early feeding experiences of caregivers of children with craniofacial microsomia
- A case report on Rubinsein-Taybi syndrome associated with a de novo CREBBP gene mutation
- A Comprehensive Approach to the Diagnosis and Management of Klippel Feil Syndrome
- A computational modelling tool for prediction of head reshaping following endoscopic strip craniectomy and helmet therapy for the treatment of scaphocephaly
- A critical eye on metopic craniosynostosis: A retrospective study assessing orbital dysmorphology as a marker of disease
- A genetic rescue strategy for Timothy syndrome
- A Novel Technique for Basilar Invagination Treatment in a Patient with Klippel-Feil Syndrome: A Clinical Example and Brief Literature Review
- A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome
- A Transfusion Regimen With Same-donor Packed Red Blood Cells Reduces Exposure to Multiple Blood Donors in Craniosynostosis Surgery
- Addition of a metoclopramide constant rate infusion to prevent ptyalism, regurgitation and vomiting in brachycephalic dogs undergoing spinal surgery
- Adenoidectomy in a child with Crouzon syndrome complicated with severe obstructive sleep apnea: Case report and review of literature
- Advances in genetic research on Non-syndromic congenital joint synostosis
- Allogeneic bone marrow transplantation in craniometaphyseal dysplasia
- An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review
- Apert syndrome: craniofacial challenges and clinical implications
- Apert syndrome: neurosurgical outcomes and complications following posterior vault distraction osteogenesis
- ASO to treat Timothy syndrome
- Attention Deficit/Hyperactivity Disorder in Individuals with Non-Syndromic Craniosynostosis: A Systematic Review and Meta-Analysis
- Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome
- Bone Bridge Transtibial Amputation by an Innovative Technique
- Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies
- Child-Patient Perspective on Results After Correction of Sagittal Synostosis and the Difference Between Child-Patient and Parent's Perspectives
- Clinical phenotype, genetic characteristics, and creation of immortalized cell lines for patients from a pedigree affected with Hunter syndrome
- Clinico-Radiological Perspectives of Pycnodysostosis - A Rare Case Series
- Cognitive Outcomes of Children With Sagittal Craniosynostosis Treated With Either Endoscopic or Open Calvarial Vault Surgery
- Comparative analysis of ocular biometry, ocular protrusion, and palpebral fissure dimensions in brachycephalic and nonbrachycephalic dog breeds
- Comparison of emotional and behavioral regulation between metopic and sagittal synostosis
- Consultations for Poland Syndrome: The Essentials for a Thoracic Surgeon
- Craniosynostosis: orofacial and oral health perspectives with masticatory insights
- Discussion: Direct Occipital Remodeling in Sagittal Synostosis Improves 2-Year Posterior Morphology after Modified Pi Procedure
- Discussion: Longitudinal Three-Dimensional Follow-Up and Surgical Safety Outcomes after Endoscopic and Open Scaphocephaly Surgery
- Duplication of right vertebral artery in Klippel-Feil anomaly
- Early posterior vault distraction osteogenesis changes the syndromic craniosynostosis treatment paradigm: long-term outcomes of a 23-year cohort study
- Effect of continuous positive airway pressure helmet on respiratory function following surgical procedures in brachycephalic dogs: A randomized controlled trial
- Efficacy and safety of sagittal synostosis surgery in older (> 12 months) patients: a systematic review and meta-analysis
- Endoscopic surgery for craniosynostosis: A systematic review and single-arm meta analysis
- Epidemiologic Assessment of Craniosynostosis in Mississippi's Pediatric Population from 2015 to 2020
- Evaluation of brachycephalic obstructive airway syndrome breeding test results in Finland from 2017 to 2022
- FBLN2 is associated with Goldenhar syndrome and is essential for cranial neural crest cell development
- Functional and Genetic Analyses Unveil the Implication of <em>CDC27</em> in Hemifacial Microsomia
- Generating a human induced pluripotent stem cell line (XACHi018-A) from a Timothy syndrome infant carrying heterozygous CACNA1C c.1216G>A (p.G406R) mutation
- Generation of an induced pluripotent stem cell line IGIBi18-A from an Indian patient with Rubinstein Taybi Syndrome
- Geospatial and Socioeconomic Disparities Influencing the Management and Outcomes of Nonsyndromic Craniosynostosis: A Systematic Review
- Geospatial and Socioeconomic Disparities Influencing the Management of Craniosynostosis
- Goldenhar syndrome
- Graftless Syndactyly Release
- Heart rate variability and vasovagal tone index in brachycephalic dogs
- Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search
- Integrative analysis of Lunatic Fringe variants associated with spondylocostal dysostosis type-III
- Klippel-Feil syndrome: Should additional examination be conducted?
- Like Father, Like Daughter - Ectodermal Dysplasia-Syndactyly Syndrome: A Case Report
- Limb reduction in an Esco2 cohesinopathy mouse model is mediated by p53-dependent apoptosis and vascular disruption
- Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
- Low Prevalence of Clinically Significant Hyponatremia following Cranial Vault Reconstruction for Single-Suture Craniosynostosis
- Making sense of Timothy syndrome with 3D human neuronal models
- Neglected Sprengel's deformity in an 80-year-old female cadaver: a case report
- Neural network analysis of pharyngeal sounds can detect obstructive upper respiratory disease in brachycephalic dogs
- New diagnostic criteria for metopic ridges and trigonocephaly: a 3D geometric approach
- Nonsyndromic Craniosynostosis Correlation Between Ethnicity, Race, and Pattern of Affected Suture Type: Meta-Analysis
- Noonan syndrome-like phenotype associated with an ERF frameshift variant
- Optic canal stenosis in Crouzon syndrome: a case report and literature review
- Optimal Diagnostic and Treatment Practices for Facial Dysostosis Syndromes: A Clinical Consensus Statement Among European Experts
- Optimal untwisting of the orbital bandeau in unicoronal craniosynostosis correction: A finite element analysis
- Oro-facial-digital syndrome type 1 and neuronal migration disorders
- Pantarsal coalition
- Parental satisfaction with hospital care for children with non-syndromic craniosynostosis: A mixed-method study
- Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasi
- Piezosurgery in endoscopic-assisted trigonocephaly correction: a technical note
- Plastic Surgery Outreach Clinics Expand Access to Cleft and Craniofacial Care in Mississippi
- Posterior Occipitocervical Fixation and Intrathecal Baclofen Therapy for the Treatment of Basilar Invagination with Klippel-Feil Syndrome: A Case Report
- Posterior Vault Distraction in the Acute Setting
- Posttraumatic proximal radioulnar synostosis: Current concepts on the clinical presentations, classifications, and open surgical approaches
- Practical Considerations in Computerized Surgical Planning for Frontofacial Surgery
- Prenatal diagnosis of a fetus with Rubinstein-Taybi syndrome
- Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism
- Proptosis during endotracheal intubation in a brachycephalic dog
- Prospective assessment of surgical stress response in patients with craniosynostosis: comparison of clinical and laboratory data
- Radiological Diagnosis of Crouzon Syndrome: A Case Study
- Refinement of Surgery for Postaxial Polysyndactyly of the Toes: Esthetic Outcome in Japanese Feet
- Response to the letter to the editor: non-invasive intracranial pressure analysis in craniosynostosis: an intriguing insight
- Rubinstein-Taybi syndrome with ileocecal volvulus: A case report
- Sociodemographic Disparities and Postoperative Outcomes Following Cranial Vault Remodeling for Craniosynostosis: Analysis of the 2012 to 2021 NSQIP-Pediatric Database
- Spliceosomal GTPase Eftud2 deficiency-triggered ferroptosis leads to Purkinje cell degeneration
- Spondylocostal dysostosis with type II split cord malformation: A report of a rare case and brief review of the literature
- Spondylothoracic Dysostosis: Crab-like Rib Cage Configuration in a Jarcho-Levin Syndrome Neonate
- Springs Produce Favorable Morphologic Outcomes Relative to H-Craniectomy According to a Two-Center Comparison of Matched Cases
- Syndactyly in a Newborn
- Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype-phenotype relationship in RASopathies
- The Assessment of Airway Compression Due to Cervical Fusion in Klippel-Feil Syndrome Patients: A Report of Two Cases
- The Breast-Pectoralis Flap: A New Advance in Autologous Breast Reconstruction-A Preliminary Report on 20 Cases
- The Lost and Variable Cause: A Systematic Review of Shunt-Related Craniosynostosis Occurrence
- The Outcome of Inferior Oblique Myectomy for Apparent Inferior Oblique Overaction Associated with Craniosynostosis
- The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients
- The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the <em>CREBBP</em> Gene
- The Top 100 Most-Cited Publications in Clinical Craniofacial Research
- Transmural APD heterogeneity determines ventricular arrhythmogenesis in LQT8 syndrome: Insights from Bidomain computational modeling
- Use of piezoelectric instrumentation in craniofacial surgery
- VACTERL Association in Patients With Metopic Synostosis: Is There a Link?
- Validating the Supraorbital Notch-Nasion-Supraorbital Notch Angle as a Marker for Metopic Craniosynostosis Severity
- What to do with an incidental finding of a fused sagittal suture: a modified Delphi study