Disease: Crouzon syndrome
- "I can't provide what my child needs": Early feeding experiences of caregivers of children with craniofacial microsomia
- 3D-CT measurements of facial symmetry in severe CFM patients: A comparative study between mandibular ascending ramus distraction osteogenesis and bone grafting
- A case of 14q terminal deletion syndrome and hemifacial microsomia with review of terminal 14q deletion cases
- A clinical epidemiological study on congenital ear malformation (CEM)
- A European multicenter outcome study on the different perioperative airway management policies following midface surgery in syndromic craniosynostosis: a proposal for a Standard Operating Procedure
- A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome
- A novel SMOC1 pathogenic homozygous variant in a fetus with mesomelia of the lower limbs, micrognathia and hypertelorism and an incidental finding of CYP21A2-related congenital adrenal hyperplasia
- A severe neurocognitive phenotype caused by biallelic CHD3 variants in two siblings
- A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs
- A unique presentation of Crouzon-like syndrome: Complex craniosynostosis in the absence of genetic mutations or familial predisposition - A case report
- Absence of the RING domain in <em>MID1</em> results in patterning defects in the developing human brain
- 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
- AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes
- Air Embolism-Induced Ischemic Stroke Following Orthognathic Surgery in a Patient With Goldenhar Syndrome
- Allogeneic bone marrow transplantation in craniometaphyseal dysplasia
- Alterations in Sphenoid Anatomy in Craniosynostosis: Implications for Fronto-Orbital Advancement
- An Adult Case of Crouzon Syndrome: Diagnostic Features and Treatment Modalities
- Analysis of genetic etiology in a patient with 1p36 deletion syndrome in conjunct with Snijders Blok-Campeau syndrome
- Apert syndrome: neurosurgical outcomes and complications following posterior vault distraction osteogenesis
- Association of cranial base suture/synchondrosis fusion with severity of increased intracranial pressure in Crouzon syndrome
- Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2
- Bioinformatics Analysis of Hub Genes Involved in Smoke-Induced Hemifacial Microsomia Pathogenesis
- Biometry challenges in the longest eyes we have encountered to date
- Characterizing Speech Phenotype in Individuals With Craniofacial Microsomia: A Scoping Review
- Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management
- Clinical and molecular study of Egyptian patients with Treacher Collins syndrome
- Clinico-Radiological Perspectives of Pycnodysostosis - A Rare Case Series
- Commentary: Endoscopic Endonasal Odontoidectomy for Upper Cervical Spine and Brainstem Decompression in a Patient With Goldenhar Syndrome: 2-Dimensional Operative Video
- Condylar resorption post mandibular distraction osteogenesis in craniofacial microsomia: A retrospective study
- Construction of a Lentiviral Vector for Fgfr2 Overexpression and its Impact on the Biological Behavior of Cranial Suture Mesenchymal Stem Cells
- Correlation analysis of airway-facial phenotype in Crouzon syndrome by geometric morphometrics: A promising method for non-radiation airway evaluation
- Correlation of Cerebrospinal Fluid Total Protein and Serum Neutrophil-to-Lymphocyte Ratio with Clinical Outcomes of Guillain-Barre Syndrome Variants
- Cranial bone microarchitecture in a mouse model for syndromic craniosynostosis
- Craniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis
- Crouzon Syndrome
- Crouzon Syndrome Spanning Three Generations: Advances in the Treatment of Syndromic Midface Deficiency
- Crouzon's syndrome and its dentofacial features
- CT features of abnormally whole-course wide eustachian tubes with microtia and atresia
- Diagnosis of a Chinese pedigree affected with Treacher-Collins syndrome due to a novel variant of TCOF1 gene through whole exome sequencing
- Dosage-dependent effects of FGFR2(W290R) mutation on craniofacial shape and cellular dynamics of the basicranial synchondroses
- Dynamic Morphological Growth Trajectory of Crouzon Population: A Geometric Morphometric Analysis
- Early Experiences of Parents of Children With Craniofacial Microsomia
- Efficacy of navigation system-assisted distraction osteogenesis for hemifacial microsomia based on artificial intelligence for 3 to 18 years old: study protocol for a randomized controlled single-blind trial
- Endoscopic Endonasal Odontoidectomy for Upper Cervical Spine and Brainstem Decompression in a Patient With Goldenhar Syndrome: 2-Dimensional Operative Video
- FBLN2 is associated with Goldenhar syndrome and is essential for cranial neural crest cell development
- First and second branchial arch involvement in mandibulofacial dysostosis Guion-Almeida type
- Flexible Actuators with Hygroscopic Adaptability for Smart Wearables and Soft Grippers
- Functional and Genetic Analyses Unveil the Implication of <em>CDC27</em> in Hemifacial Microsomia
- Goldenhar syndrome
- Goldenhar syndrome with limbal neoformation, microtia and skeletal deformities: a case report and literature review
- Goldenhar Syndrome: Quality-of-Life Analysis of 43 Consecutive Patients
- Hemifacial Microsomia
- Human diprosopus: Case report of a rare congenital abnormality
- Identification of a de novo PUF60 variant associated with craniofacial microsomia
- LeFort III Versus Monobloc Frontofacial Advancement: A Comparative Analysis of Soft Tissue Changes
- Limb reduction in an Esco2 cohesinopathy mouse model is mediated by p53-dependent apoptosis and vascular disruption
- Loeys-Dietz syndrome and Goldenhar syndrome unveiled together
- Management of unilateral craniofacial microsomia with orthopaedic functional appliances: A systematic literature review
- Mandibulofacial Dysostosis
- Model test study on treatment of Pruzansky type ⅡB and Ⅲ hemifacial microsomia with artificial condyle-mandibular distractor complex
- Modified horizontal muscle transposition without tenotomy and splitting for a case of inferior rectus and inferior oblique muscles aplasia with hemifacial microsomia
- Morphological and quantitative study of the inferior alveolar nerve canal in hemifacial microsomia
- Multiple rhabdomyomatous mesenchymal hamartomas in a patient with mosaic Barber-Say syndrome
- Mystery of the Muenke midface: spheno-occipital synchondrosis fusion and craniofacial skeletal patterns
- New CRISPR/Cas9-based Fgfr2(C361Y/+) mouse model of Crouzon syndrome exhibits skull and behavioral abnormalities
- Non-progressive mandibular changes in children with Type I and II craniofacial microsomia
- Optic canal stenosis in Crouzon syndrome: a case report and literature review
- Optic nerve elongation during fronto-facial surgery for Crouzon syndrome: 3D quantification and clinical implications
- Optimal Diagnostic and Treatment Practices for Facial Dysostosis Syndromes: A Clinical Consensus Statement Among European Experts
- p53 inhibitor or antioxidants reduce the severity of ethmoid plate deformities in zebrafish Type 3 Treacher Collins syndrome model
- Pfeiffer Syndrome
- Plea for systematic prenatal genes panel testing when facing isolated craniosynostosis on fetal imaging
- Possible germline mosaicism in a pedigree with Treacher Collins syndrome: A case report and brief review
- Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism
- Prenatal findings in 11 cases with craniofacial microsomia using the Alberta Congenital Anomalies Surveillance System, 1997-2019
- Radiological Diagnosis of Crouzon Syndrome: A Case Study
- Risk factors and characteristics of the birth of patients with craniofacial microsomia, a case-control study
- Sensitivity, specificity and cutoff identifying optic atrophy by macular ganglion cell layer volume in syndromic craniosynostosis
- Sensitivity, Specificity, and Cutoff Identifying Optic Atrophy by Macular Ganglion Cell Layer Volume in Syndromic Craniosynostosis
- Severity of Mandibular Dysmorphology in Treacher Collins Syndrome for Stratification of Perioperative Airway Risk
- Skeletal changes after midface surgery in patients with craniofacial deformities: a three-dimensional quantification method
- Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in <em>CHD3</em> and Literature Review
- Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
- Soft-tissue, non-osteogenic distraction of the mandible and lower face in bilateral hemifacial microsomia-technical report
- Speech and Language Development, Hearing, and Feeding in Patients With Genetically Confirmed Crouzon Syndrome With Acanthosis Nigricans: A 36-Year Longitudinal Retrospective Review of Patients at the Oxford Craniofacial Unit
- Syndromic Craniofacial Disorders
- Syndromic Craniosynostosis: A Comprehensive Review
- The influence of orbital architecture on strabismus in craniosynostosis
- The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP)
- Thirty-year Experience Treating Syndromic Craniosynostosis: Long-term Outcomes Following Cranial Expansions
- Three-dimensional quantification of soft tissue changes and its relationship to skeletal changes after Le Fort III, monobloc, and facial bipartition in syndromic craniosynostosis
- Transcriptomic analysis reveals mitochondrial dysfunction in the pathogenesis of Nager syndrome in sf3b4-depleted zebrafish
- Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly
- Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome
- Unexpected massive bleeding during the modified LeFort III advancement surgery for Crouzon syndrome: A case report
- Vascular variation of temporoparietal fascia in microtia associated with hemifacial microsomia
- Velopharyngeal dysfunction and speech-related characteristics in craniofacial microsomia: a retrospective analysis of 223 patients
- Velopharyngeal insufficiency, speech, and language impairment in craniofacial microsomia: a scoping review
- Volumetric segmentation in the context of posterior fossa-related pathologies: a systematic review