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The phenotype of fibrodysplasia ossificans progressiva

  • Fibrodysplasia Ossificans Progressiva
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Clinical Reviews in Bone and Mineral Metabolism Aims and scope Submit manuscript

Abstract

The phenotype of fibrodysplasia ossificans progressiva (FOP) includes two defining features: congenital malformation of the great toes and progressive heterotopic ossification in characteristic anatomic patterns. Additional common features include proximal medial tibial osteochondromas, orthotopic fusions of the posterior elements of the cervical spine, broad short femoral necks, and conductive hearing loss. The FOP phenotype supports that the primary molecular pathology involves the bone morphogenetic protein (BMP)-signaling pathway directly or a BMP-interacting pathway.

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Authors and Affiliations

  1. Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, PA

    Frederick S. Kaplan MD & Eileen M. Shore PhD

  2. Department of Genetics, The University of Pennsylvania School of Medicine, Philadelphia, PA

    Eileen M. Shore PhD

  3. The Center for Research in FOP and Related Disorders, The University of Pennsylvania School of Medicine, Philadelphia, PA

    Frederick S. Kaplan MD, David L. Glaser MD, Gregory K. Deirmengian MD & Rishi Gupta MD

  4. The University of Santa Casa de Misericordia of São Paolo School of Medicine, São Paolo, Brazil

    Patricia Delai MD

  5. KinderKlinik, Klinikum Garmisch-PanenKinchen, Germany

    Rolf Morhart MD

  6. Nuffield Orthopaedic Centre, Headington, Oxford, UK

    Roger Smith MD

  7. Hôpital Necker, Paris, France

    Martine Le Merrer MD

  8. Royal Children's Hospital Genetics Clinic, Royal Children's Hospital, Melbourne, Australia

    John G. Rogers MD

  9. Duncan Guthrie Institute of Medical Genetics, University of Glasgow Medical School, Glasgow, Scotland

    J. Michael Connor MD

  10. Department of Pediatrics and Cardiovascular Research Institute, University of California, San Francisco, CA

    Joseph A. Kitterman MD

  11. Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Silverstein Two, 3400 Spruce St., 19104, Philadelphia, PA

    Frederick S. Kaplan MD, David L. Glaser MD, Eileen M. Shore PhD, Gregory K. Deirmengian MD & Rishi Gupta MD

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  1. Frederick S. Kaplan MD
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  2. David L. Glaser MD
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  12. Joseph A. Kitterman MD
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Correspondence to Frederick S. Kaplan MD.

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Kaplan, F.S., Glaser, D.L., Shore, E.M. et al. The phenotype of fibrodysplasia ossificans progressiva. Clinic Rev Bone Miner Metab 3, 183–188 (2005). https://doi.org/10.1385/BMM:3:3-4:183

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  • DOI: https://doi.org/10.1385/BMM:3:3-4:183

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