Disease: Treacher Collins syndrome
- <em>TCOF1</em> Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery
- "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 feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments
- A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome
- Adults with Treacher Collins Syndrome Share Comparable 3D Upper Airway Dimensions with Nonsyndromic Individuals
- 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
- Anesthetic Consideration in Pierre Robin Sequence
- Artificial intelligence-based diagnosis in fetal pathology using external ear shapes
- Associated anomalies in Pierre Robin sequence
- Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2
- Bilateral Maxillary Duplication in Tessier No. 7 Cleft: An Uncommon Congenital Deformity with a Challenging Radiological Diagnosis
- Bioinformatics Analysis of Hub Genes Involved in Smoke-Induced Hemifacial Microsomia Pathogenesis
- 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
- Clinical report and genetic analysis of a Chinese neonate with craniofacial microsomia caused by a splicing variant of the splicing factor 3b subunit 2 gene
- 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
- Correlation of Cerebrospinal Fluid Total Protein and Serum Neutrophil-to-Lymphocyte Ratio with Clinical Outcomes of Guillain-Barre Syndrome Variants
- Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <em>POLR3A</em>, <em>POLR3B</em> and <em>POLR1C</em>
- Craniofacial Microsomia, Associated Congenital Anomalies, and Risk Factors in 63 Cases from the Alberta Congenital Anomalies Surveillance System
- Craniofacial Microsomia: New Updates in Spinal Anomalies
- 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
- Difficult or impossible facemask ventilation in children with difficult tracheal intubation: a retrospective analysis of the PeDI registry
- Distinct Interaction Modes for the Eukaryotic RNA Polymerase Alpha-like Subunits
- 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
- Establishing an International Interdisciplinary Research Network in Craniofacial Microsomia: The CARE Program
- Evaluation of Research Diagnostic Criteria in Craniofacial Microsomia
- 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
- Focuses, Trends, and Developments in Craniofacial Microsomia From 1992 to 2022: A Bibliometric Analysis
- Functional and Genetic Analyses Unveil the Implication of <em>CDC27</em> in Hemifacial Microsomia
- Goldenhar syndrome
- Goldenhar syndrome complicated with subglottic airway stenosis: a case report
- Goldenhar Syndrome Patient with Craniocerebral Lesion
- 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 with extensive ipsilateral white matter hyperintensity
- Human Malformed Perinatal Anthropological Crania Contribute to New Insight in the Extension of Bone Malformations in Cranial Development
- Identification of a de novo PUF60 variant associated with craniofacial microsomia
- Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance
- Kaban-Pruzansky Grade Predicts Airway Severity in Hemifacial Microsomia
- Loeys-Dietz syndrome and Goldenhar syndrome unveiled together
- Management of unilateral craniofacial microsomia with orthopaedic functional appliances: A systematic literature review
- Mandibular Distraction in Dual Syndromic Diagnosis
- Mandibular Dysmorphology and Clinical Presentation in Treacher Collins Syndrome
- Mandibulofacial Dysostosis
- Measurement of the normal mandible in neonates in east China
- Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report
- 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
- Modified Nishida's procedure for esotropia in Duane syndrome associated with Goldenhar syndrome
- Morphological and quantitative study of the inferior alveolar nerve canal in hemifacial microsomia
- Morphological integration in inferior alveolar canal and mandibular shapes
- Navigating Complexity in Mandibular Condyle Aplasia and Temporomandibular Joint Ankylosis in a Five-Year-Old Child: A Case Report
- Neural Crest
- Non-progressive mandibular changes in children with Type I and II craniofacial microsomia
- Obstructive Sleep Apnea in Adults with Treacher Collins Syndrome is Related with Altered Anthropometric Measurements, Increased Blood Pressure and Impaired Quality of Life
- Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review
- Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome
- p53 inhibitor or antioxidants reduce the severity of ethmoid plate deformities in zebrafish Type 3 Treacher Collins syndrome model
- Pediatric Temporomandibular Joint Pathology
- Periorbital Outcomes and Vision Risk Stratification in Treacher Collins Syndrome
- POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
- Possible germline mosaicism in a pedigree with Treacher Collins syndrome: A case report and brief review
- Prenatal Diagnosis of Fetal Micrognathia at 11-20 Weeks of Gestation: A Prospective Observation Study
- Prenatal diagnosis of Treacher Collins syndrome: A case report and literature review
- Prenatal findings in 11 cases with craniofacial microsomia using the Alberta Congenital Anomalies Surveillance System, 1997-2019
- Quantitative Analysis on Cartilage Growth Between Ipsilateral and Contralateral Donor Sites in Microtia Patients
- Respiratory outcome of mandibular distraction osteogenesis on obstructive sleep apnea in craniofacial microsomia: A retrospective study
- Risk factors and characteristics of the birth of patients with craniofacial microsomia, a case-control study
- School participation among young people with craniofacial microsomia and other childhood-onset disabilities
- Sequential treatment of oral and maxillofacial deformities with hemifacial microsomia
- Severity of Mandibular Dysmorphology in Treacher Collins Syndrome for Stratification of Perioperative Airway Risk
- Single-stage Repair of Bilateral Cleft Lip and Bilateral Transverse Facial Cleft in Goldenhar Syndrome: A Case Report
- Soft-tissue, non-osteogenic distraction of the mandible and lower face in bilateral hemifacial microsomia-technical report
- Spliceosomal GTPase Eftud2 deficiency-triggered ferroptosis leads to Purkinje cell degeneration
- Surgical Outcome and Treatment Trends in 1289 Infants with Micrognathia: A Multicenter Cohort
- Systematic Review of Current Audiological Treatment Options for Patients with Treacher Collins Syndrome (TCS) and Surgical and Audiological Experiences of an Otorhinolaryngologist with TCS
- TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery
- The application of three-dimensional printing in the management of a difficult airway due to Treacher Collins syndrome
- The spontaneous mouse mutant low set ears (Lse) is caused by tandem duplication of Fgf3 and Fgf4
- The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP)
- TMJ Ankylosis Following Mandibular Distraction Osteogenesis: Management With Simultaneous Midface External Distraction and Bilateral Temporomandibular Joint Replacement
- Total temporomandibular joint reconstruction prosthesis in hemifacial microsomia: A systematic review
- Transcriptomic analysis reveals mitochondrial dysfunction in the pathogenesis of Nager syndrome in sf3b4-depleted zebrafish
- Treacher Collins Syndrome Associated with Disproportionate Nervous System, Cardiovascular, Otologic Complications Among 1,114 Patients
- Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome
- Use of adipose derived stem cells in Treacher Collins syndrome
- Using a New Deep Learning Method for 3D Cephalometry in Patients With Hemifacial Microsomia
- 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
