310 top medical experts on Mandibulofacial Dysostosis across 38 countries and 27 U.S. states, including 141 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Mandibulofacial Dysostosis: A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and congenital microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Coloboma (1,958), Craniofacial Dysostosis (1,042) and Narrower Categories: Goldenhar Syndrome (1,226).
  4. Clinical Trials ClinicalTrials.gov : at least 1 including 1 Recruiting
  5. Synonyms: Treacher Collins Syndrome


  

        

                    


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  1. Taylor, Jesse A   Plastic Surgery   Google Publications
    Division of Plastic and Reconstructive Surgery, The Childrens Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Physician  Highly Published  Case Reports 
    Disclosed payments in 2021 from 7 biomedical companies, totalling $1,160.76, including $742.5 from  Synthes GmbH
    Subjects: Hand Deformities, Congenital; Bone Transplantation; Malocclusion; Orbit; Reconstructive Surgical Procedures
    Categories: Surgery; Abnormalities; Diagnosis; Genetics; Methods; Classification
    Bilateral orbitozygomatic reconstruction with tissue-engineered bone. (2010)
    A Morphological Classification Scheme for the Mandibular Hypoplasia in Treacher Collins Syndrome. (2017)

  2. Bradley, James P   Oral & Maxillofacial Surgery  Google Publications
    Physician  Highly Published 
    Medical school: Other (MD, 1991)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 88.9/100
    Disclosed payments in 2021 from 6 biomedical companies, totalling $3,024.75, including $3,024.75 from  KLS-Martin L.P.
    Subjects: Reconstructive Surgical Procedures; Adipose Tissue; Cephalometry; Goldenhar Syndrome; Imaging, Three-Dimensional
    Categories: Methods; Surgery; Diagnostic Imaging; Abnormalities; Transplantation
    Autologous fat transplantation in the craniofacial patient: the UCLA experience. (2012)
    Pierre Robin sequence and Treacher Collins hypoplastic mandible comparison using three-dimensional morphometric analysis. (2012)

  3. Dauwerse, Johannes G   Google Publications
    Center for Human and Clinical Genetics, Leiden University Medical Center LUMC, Leiden, The Netherlands.
    Scientist 
    Subjects: Mutation; RNA Polymerase I; RNA Polymerase III
    Categories: Genetics
    Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. (2011)

  4. Travieso, Roberto   Plastic Surgery  Google Publications
    Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, CT 06520, USA. Top Hospital
    Physician  Highly Published 
    Disclosed payments from biomedical company (DePuy Synthes Sales Inc.) in 2021 for $124.55
    Subjects: Facial Bones; Mandibular Condyle; Masseter Muscle; Skull; Zygoma
    Categories: Pathology; Abnormalities
    A range of malar and masseteric hypoplasia exists in Treacher Collins syndrome. (2013)
    An analysis of mandibular volume in treacher collins syndrome. (2012)

  5. Bartlett, Scott P   Plastic Surgery  Google Publications
    Physician  Highly Published 
    Disclosed payments in 2021 from 3 biomedical companies, totalling $1,086.96, including $720 from  Synthes USA Products LLC
    Subjects: Facial Asymmetry; Facial Bones; Malocclusion; Mandible; Skull
    Categories: Pathology; Abnormalities; Surgery; Classification
    An analysis of mandibular volume in treacher collins syndrome. (2012)
    Mandibular volumetric comparison of treacher collins syndrome and hemifacial microsomia. (2012)

  6. Wan, Derrick C   Plastic Surgery  Google Publications
    Physician  Highly Published 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 65/100
    Disclosed payments in 2021 from 5 biomedical companies, totalling $420.32, including $269.8 from  KLS-Martin L.P.
    Subjects: Pierre Robin Syndrome; Adipose Tissue; Temporal Muscle; Cephalometry; Goldenhar Syndrome
    Categories: Diagnostic Imaging; Methods; Abnormalities; Pathology; Surgery; Transplantation
    Autologous fat transplantation in the craniofacial patient: the UCLA experience. (2012)
    Pierre Robin sequence and Treacher Collins hypoplastic mandible comparison using three-dimensional morphometric analysis. (2012)

  7. Wieczorek, Dagmar   Google Publications
    Institute of Human Genetics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
    Scientist  Highly Cited  Highly Published  Case Reports 
    Subjects: Mutation; Nuclear Proteins; Phosphoproteins; Abnormalities, Multiple; Craniofacial Abnormalities
    Categories: Genetics; Metabolism; Pathology; Enzymology; Abnormalities; Congenital
    Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. (2011)
    POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. (2020)

  8. Fitzpatrick, David R   Family Medicine  Google Publications
    Physician  Case Reports 
    Disclosed payments from biomedical company (Novo Nordisk Inc) in 2021 for $45.38
    Subjects: Abnormalities, Multiple; Exome; Limb Deformities, Congenital; Micrognathism; Mutation
    Categories: Genetics; Enzymology; Deficiency
    Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. (2013)
    Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. (2012)

  9. Fan, Kenneth L   Plastic Surgery  Google Publications
    Division of Plastic Surgery, David Geffen School of Medicine, University Of California-Los Angeles, 200 UCLA Medical Plaza, Los Angeles, CA 90095, USA.
    Physician 
    Disclosed payments in 2021 from 4 biomedical companies, totalling $184.91, including $114.23 from  Mentor Worldwide LLC
    Subjects: Reconstructive Surgical Procedures; Adipose Tissue; Goldenhar Syndrome; Orbit; Zygoma
    Categories: Surgery; Methods; Transplantation
    Autologous fat transplantation in the craniofacial patient: the UCLA experience. (2012)
    Optimizing the timing and technique of Treacher Collins orbital malar reconstruction. (2012)

  10. Cunningham, Michael L   Dermatology   Google Publications
    Physician 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 76.2/100
    Subjects: DNA-Binding Proteins; Hedgehog Proteins; Microcephaly; Mutation; Peptide Elongation Factor Tu
    Categories: Genetics
    Mandibulofacial dysostosis with microcephaly caused by EFTUD2 mutations: expanding the phenotype. (2013)
    Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. (2014)

  11. Levi, Benjamin   Surgery  Google Publications
    Physician 
    Disclosed payments in 2021 from 3 biomedical companies, totalling $2,039.97, including $2,000 from  Ipsen Biopharmaceuticals, Inc
    Subjects: Pierre Robin Syndrome; Temporal Muscle; Adipose Tissue; Cephalometry; Imaging, Three-Dimensional
    Categories: Diagnostic Imaging; Abnormalities; Methods; Pathology
    Pierre Robin sequence and Treacher Collins hypoplastic mandible comparison using three-dimensional morphometric analysis. (2012)
    Novel application of human morphomics to quantify temporal soft tissues in Pierre Robin and Treacher Collins. (2013)

  12. Smith, Francis Joel   Psychiatry  Google Publications
    University of Colorado - Anschutz Medical Campus, Aurora, Colorado, USA.
    Physician  Case Reports 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 98/100
    Subjects: Craniofacial Abnormalities
    Three-Dimensional Upper Airway Assessment in Treacher Collins Syndrome. (2020)
    Long-term treatment outcomes from a patient's perspective with Treacher Collins syndrome. (2021)

  13. Dixon, Michael J  Google Publications
    Division of Dentistry, Faculty of Biology, Medicine & Health, Manchester Academic Health Sciences Centre, Michael Smith Building, University of Manchester, Manchester, UK.
    Scientist  Highly Published 
    Subjects: Antioxidants; Dietary Supplements; Mutation; Neural Crest; RNA Polymerase I
    Categories: Genetics; Pathology; Administration & Dosage; Analysis; Prevention & Control
    Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. (2011)
    Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation. (2016)

  14. Park, Sarah S   Internal Medicine  Google Publications
    Craniofacial Center, Seattle Childrens Hospital, Seattle, WA 98105, USA.
    Physician 
    Subjects: DNA-Binding Proteins; Hedgehog Proteins; Microcephaly; Mutation; Peptide Elongation Factor Tu
    Categories: Genetics
    Mandibulofacial dysostosis with microcephaly caused by EFTUD2 mutations: expanding the phenotype. (2013)
    Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. (2014)

  15. Hopper, Richard A   Diagnostic Radiology   Google Publications
    The Craniofacial Center, Seattle Childrens Hospital, 4800 Sand Point Way Northeast, Seattle, WA 98105, USA; Division of Plastic Surgery, Department of Surgery, University of Washington. Electronic address: . Top Hospital
    Physician  Clinical Trial 
    Subjects: Osteogenesis, Distraction; Goldenhar Syndrome; Osteotomy, Le Fort; Tracheostomy
    Categories: Surgery; Methods
    Counterclockwise Craniofacial Distraction Osteogenesis for Tracheostomy-Dependent Children with Treacher Collins Syndrome. (2018)
    Counterclockwise Craniofacial Distraction Osteogenesis. (2021)

  16. Trainor, Paul A   Google Publications
    Stowers Institute for Medical Research, Kansas City, MO, USA.
    Scientist  Highly Cited  Highly Published 
    Subjects: Neural Crest; Limb Deformities, Congenital; Abnormalities, Multiple; Antioxidants; Craniofacial Abnormalities
    Categories: Genetics; Therapy; Metabolism; Pathology; Prevention & Control; Administration & Dosage
    Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention. (2010)
    Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation. (2016)

  17. Tucker, Abigail S   Obstetrics & Gynecology  Google Publications
    Physician 
    Disclosed payments in 2021 from 6 biomedical companies, totalling $184.29, including $115.65 from  Ethicon US, LLC
    Subjects: Facial Bones; Skull
    Categories: Growth & Development; Genetics
    Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome. (2013)
    Phenotype variation in Treacher Collins Syndrome: from missense to splice site mutations. (2013)

  18. Teng, Edward   Plastic Surgery  Google Publications
    Physician 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 78.2/100
    Disclosed payments from biomedical company (AXOGEN) in 2021 for $95.29
    Subjects: Facial Asymmetry; Mandible; Mandibular Condyle
    Categories: Pathology; Abnormalities
    A range of condylar hypoplasia exists in Treacher Collins syndrome. (2013)
    Mandibular volumetric comparison of treacher collins syndrome and hemifacial microsomia. (2012)

  19. Boers, Agnes Clement-de  Google Publications
    Scientist 
    Subjects: Mutation; RNA Polymerase I; RNA Polymerase III
    Categories: Genetics
    Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. (2011)

  20. Breuning, Martijn H  Google Publications
    Scientist 
    Subjects: Mutation; RNA Polymerase I; RNA Polymerase III
    Categories: Genetics
    Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. (2011)

Note:
  1. These experts have limited publications on this topic in our database, so expertise assessment may not be accurate.
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These expert listings are for individual use without a fee. Biotechs, Pharmaceuticals, Recruiters, Consultants, Investors, Law firms, and other organizations may use this only for quick evaluations (no downloads or screen scraping) to identify the top medical experts for recruiting, advisory panels, boards, and consulting. Please contact us for licensing, customized queries, feedback and questions.

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