669 top medical experts on Osteochondrodysplasias across 49 countries and 32 U.S. states, including 546 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Osteochondrodysplasias: Abnormal development of cartilage and bone.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Inborn Genetic Diseases (2,477), Developmental Bone Diseases (4,620) and Narrower Categories: Achondroplasia (1,455), Acquired Hyperostosis Syndrome (776), Camurati-Engelmann Syndrome (234), Chondrodysplasia Punctata (465), Cleidocranial Dysplasia (692), Congenital Cortical Hyperostosis (449), Ellis-Van Creveld Syndrome (774), Enchondromatosis (573), Fibrous Dysplasia of Bone (1,399), Hyperostosis Frontalis Interna (223), Kashin-Beck Disease (279), Langer-Giedion Syndrome (391), Osteochondroma (1,999), Osteogenesis Imperfecta (1,245), Osteosclerosis (1,197), Pycnodysostosis (330), Short Rib-Polydactyly Syndrome (306), Slipped Capital Femoral Epiphyses (1,067).
  4. Clinical Trials ClinicalTrials.gov : at least 32 including 4 Active, 13 Completed, 5 Recruiting
  5. Synonyms: Dyschondroplasias,  Hyperostosis Corticalis Generalisata,  Melnick-Needles Syndrome,  Multiple Epiphyseal Dysplasia,  Schwartz-Jampel Syndrome,  Spondyloepiphyseal Dysplasia


  

        

                    


    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, screen scraping or using the data) to identify the top medical experts for recruiting, advisory panels, boards, and consulting. Please contact us for licensing, customized queries, feedback and questions.

  1. Krakow, Deborah   Orthopaedic Surgery   Google Publications
    Department of Orthopaedic Surgery, Department of Human Genetics and Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, University of California, Los Angeles, Los Angeles, CA 90095, USA. Top Hospital
    Physician  Highly Cited  Highly Published  Case Reports 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 69/100
    Disclosed payments in 2021 from 2 biomedical companies, totalling $7,700.5, including $4,275 from  BioMarin Pharmaceutical Inc.
    Subjects: Mutation; Dwarfism; Phosphoric Monoester Hydrolases; Collagen Type XI; Contractile Proteins
    Categories: Genetics; Metabolism; Pathology; Abnormalities; Diagnosis; Chemistry
    The skeletal dysplasias. (2010)
    Exome sequencing identifies PDE4D mutations in acrodysostosis. (2012)

  2. Strauss, Kevin A   Pediatrics   Google Publications
    Clinic for Special Children, Strasburg, Pa.
    Physician 
    Disclosed payments in 2021 from 22 biomedical companies, totalling $10,468.43, including $7,618.48 from  Novartis Gene Therapies, Inc. (fka AveXis, Inc.)
    Subjects: Hirschsprung Disease; Immunologic Deficiency Syndromes; ATP-Dependent Proteases; Apoptosis; Cell Cycle
    Categories: Genetics; Immunology; Congenital; Abnormalities; Physiology
    CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. (2015)
    Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. (2011)

  3. Mackenzie, William G   Pediatric Orthopaedic Surgery  Google Publications
    Department of Orthopedic Surgery - Nemours/ A.I. duPont Hospital for Children, Wilmington, DE, USA.
    Physician  Highly Cited  Highly Published  Case Reports 
    Disclosed payments in 2021 from 13 biomedical companies, totalling $11,428.17, including $6,735.07 from  BioMarin Pharmaceutical Inc.
    Subjects: Dwarfism; Spine; TRPV Cation Channels; Airway Management; Anesthesia
    Categories: Genetics; Surgery; Methods; Pathology; Epidemiology; Complications
    Best practices in peri-operative management of patients with skeletal dysplasias. (2017)
    Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia. (2021)

  4. White, Klane K   Pediatric Orthopaedic Surgery   Google Publications
    Department of Orthopedics and Sports Medicine, Seattle Childrens Hospital, Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, WA, USA. Top Hospital
    Physician 
    Medical school: George Washington University School of Medicine (MD, 1997)
    Medicare Accepted
    Disclosed payments in 2021 from 8 biomedical companies, totalling $10,089.93, including $10,089.93 from  BioMarin Pharmaceutical Inc.
    Subjects: Disease Management; Perioperative Care; Practice Guidelines as Topic; Spine
    Categories: Standards; Surgery
    Best practices in peri-operative management of patients with skeletal dysplasias. (2017)
    Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia. (2021)

  5. Lee, Brendan H   Pediatrics  Google Publications
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Top Hospital
    Physician  Case Reports 
    Subjects: Collagen Type II; Growth Disorders; Tibial Fractures; Carrier Proteins; Fibronectins
    Categories: Genetics; Diagnosis; Abnormalities; Metabolism; Physiology
    Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with Corner Fractures. (2017)
    Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. (2017)

  6. Bacino, Carlos A   Pediatrics  Google Publications
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Childrens Hospital, Houston, TX 77030, USA. Top Hospital
    Physician  Case Reports 
    Disclosed payments from biomedical company (BioMarin Pharmaceutical Inc.) in 2021 for $3,924.46
    Subjects: Mutation; Chromosomal Instability; Collagen Type II; Collagen Type XI; Cyclic Nucleotide Phosphodiesterases, Type 3
    Categories: Genetics; Pathology; Diagnosis
    Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. (2013)
    Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with Corner Fractures. (2017)

  7. Burrage, Lindsay C   Pediatrics  Google Publications
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Childrens Hospital, Houston, TX 77030, USA. Top Hospital
    Physician  Case Reports 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 75.8/100
    Subjects: Collagen Type II; Growth Disorders; Tibial Fractures; Chromosomal Instability; DNA Damage
    Categories: Genetics; Diagnosis; Pathology; Abnormalities
    Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. (2019)
    Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. (2017)

  8. Kozin, Scott H   Surgery   Google Publications
    Orthopaedic Surgery, Shriners Hospital for Children Philadelphia, Philadelphia, PA.
    Physician 
    Disclosed payments in 2021 from 5 biomedical companies, totalling $2,294.95, including $2,294.95 from  Checkpoint Surgical, Inc
    Subjects: Growth Disorders; Wrist Joint; Joint Dislocations; Osteotomy; Ulna
    Categories: Surgery; Diagnostic Imaging; Pathology; Diagnosis; Methods
    Madelung deformity and Madelung-type deformities: a review of the clinical and radiological characteristics. (2015)
    Madelung Deformity. (2015)

  9. Kamps, Shawn E   Pediatric Radiology  Google Publications
    Department of Orthopedics and Sports Medicine, Seattle Childrens Hospital, Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, WA, USA. Top Hospital
    Physician 
    Subjects: Disease Management; Musculoskeletal Abnormalities; Perioperative Care; Practice Guidelines as Topic; Spine
    Categories: Diagnostic Imaging; Standards; Surgery
    Best practices in peri-operative management of patients with skeletal dysplasias. (2017)
    Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia. (2021)

  10. Raggio, Cathleen   Pediatric Orthopaedic Surgery  Google Publications
    Department of Orthopedic Surgery, Hospital for Special Surgery, New York, NY, USA.
    Physician 
    Disclosed payments in 2021 from 8 biomedical companies, totalling $17,057.53, including $9,809.53 from  BioMarin Pharmaceutical Inc.
    Subjects: Disease Management; Perioperative Care; Practice Guidelines as Topic; Spine
    Categories: Standards; Surgery
    Best practices in peri-operative management of patients with skeletal dysplasias. (2017)
    Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia. (2021)

  11. Valle, David   Pediatrics  Google Publications
    Human Genetics and Molecular Biology, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. Top Hospital
    Physician  Case Reports 
    Subjects: Choline-Phosphate Cytidylyltransferase; Corneal Dystrophies, Hereditary; Mutation; Mutation, Missense; Phosphatidylcholines
    Categories: Genetics; Metabolism; Pathology
    Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. (2014)
    An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias. (2015)

  12. Gormley, Andrew K   Pediatric Critical Care Medicine  Google Publications
    Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
    Physician 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 82.8/100
    Subjects: Arteriosclerosis; Immunologic Deficiency Syndromes; Nephrotic Syndrome; Pulmonary Embolism; Aorta
    Categories: Metabolism; Genetics; Physiopathology
    Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? (2012)
    Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia? (2016)

  13. Stenzel, Peter   Anatomic Pathology  Google Publications
    Department of Pathology, Oregon Health and Science University, Portland, OR, USA.
    Physician 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 80.3/100
    Subjects: Arteriosclerosis; Immunologic Deficiency Syndromes; Nephrotic Syndrome; Pulmonary Embolism; Alleles
    Categories: Metabolism; Genetics; Physiopathology
    Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. (2012)
    Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? (2012)

  14. Najafian, Behzad   Anatomic Pathology  Google Publications
    Department of Pathology, University of Washington, Seattle, WA, USA. Top Hospital
    Physician 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 72/100
    Disclosed payments from biomedical company (SANOFI-AVENTIS U.S. LLC) in 2021 for $2,925
    Subjects: Arteriosclerosis; Immunologic Deficiency Syndromes; Nephrotic Syndrome; Pulmonary Embolism; Emphysema
    Categories: Metabolism; Genetics; Physiopathology
    Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? (2012)
    Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD). (2015)

  15. Schlesinger, Alan E   Diagnostic Radiology  Google Publications
    Department of Pediatric Radiology, Texas Childrens Hospital, Houston, TX 77030, USA; Department of Radiology, Baylor College of Medicine, Houston, TX 77030, USA. Top Hospital
    Physician  Case Reports 
    Subjects: Collagen Type II; Growth Disorders; Tibial Fractures; Chromosomal Instability; DNA Damage
    Categories: Genetics; Diagnosis; Pathology; Abnormalities
    Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. (2019)
    Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. (2017)

  16. Hunley, Tracy E   Pediatric Nephrology  Google Publications
    Division of Pediatric Nephrology, Vanderbilt Childrens Hospital, Nashville, TN, USA.
    Physician  Case Reports 
    Medical school: University of Tennessee, Hsc, College of Medicine (MD, 1991)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 73.2/100
    Subjects: Arteriosclerosis; Immunologic Deficiency Syndromes; Nephrotic Syndrome; Pulmonary Embolism; DNA Helicases
    Categories: Genetics; Metabolism
    Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child. (2013)
    Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD). (2015)

  17. Parham, David M   Anatomic Pathology & Clinical Pathology  Google Publications
    Department of Pathology, Childrens Hospital Los Angeles and Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. Top Hospital
    Physician 
    Subjects: Arteriosclerosis; Immunologic Deficiency Syndromes; Nephrotic Syndrome; Pulmonary Embolism; Aorta
    Categories: Metabolism; Genetics; Physiopathology
    Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? (2012)
    Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia? (2016)

  18. Legare, Janet M   Developmental - Behavioral Pediatrics  Google Publications
    University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.
    Physician 
    Disclosed payments in 2021 from 8 biomedical companies, totalling $15,268.92, including $15,268.92 from  BioMarin Pharmaceutical Inc.
    Subjects: Achondroplasia; Craniosynostoses; Seizures
    Categories: Epidemiology
    Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States. (2021)
    CLARITY: Co-occurrences in achondroplasia-craniosynostosis, seizures, and decreased risk of diabetes mellitus. (2021)

  19. Yu, Zhongxin   Anatomic Pathology & Clinical Pathology  Google Publications
    Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
    Physician 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 52/100
    Subjects: Arteriosclerosis; Immunologic Deficiency Syndromes; Nephrotic Syndrome; Pulmonary Embolism; Aorta
    Categories: Metabolism; Genetics; Physiopathology
    Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? (2012)
    Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia? (2016)

  20. Levin, Mark D   Pediatrics  Google Publications
    Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, MO 63110; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110;
    Physician 
    Subjects: Cardiomegaly; Hypertrichosis; KATP Channels; Atrioventricular Block; Calcium Channels, L-Type
    Categories: Metabolism; Genetics
    K(ATP) channel gain-of-function leads to increased myocardial L-type Ca(2+) current and contractility in Cantu syndrome. (2016)
    Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome. (2015)

Note:
  1. These experts have limited publications on this topic in our database, so expertise assessment may not be accurate.
  2. Only the top 20 experts are shown. You may filter your results or use the geolocation tabs. Contact us to purchase the entire list.
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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