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Fibrodysplasia ossificans progressiva: a current review of imaging findings

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Abstract

Objective

Fibrodysplasia ossificans progressiva is a rare genetic disorder characterized by congenital skeletal deformities and soft tissue masses that progress to heterotopic ossification. Deformities of the great toes are distinctive, and heterotopic ossification in the soft tissues follows an expected anatomic and temporal pattern. In addition to heterotopic ossification, osteochondromata, middle ear ossification, demyelination, lymphedema, and venous thrombosis are characteristic. Awareness of this constellation of findings is important to early diagnosis and surveillance.

Conclusions

Recognition of the imaging manifestations of fibrodysplasia ossificans progressiva is imperative to early diagnosis in order to appropriately direct patient care and preclude unnecessary biopsies or surgical procedures.

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Authors and Affiliations

  1. Kaiser Fontana Medical Center, Fontana, CA, USA

    Adam H. Bauer

  2. Department of Radiology and Biomedical Imaging, University of California, San Francisco, CA, USA

    Jeff Bonham, Luis Gutierrez & Daria Motamedi

  3. Division of Endocrinology, Diabetes, and Metabolism and the Institute for Human Genetics, Department of Medicine, University of California, San Francisco, CA, USA

    Edward C. Hsiao

Authors
  1. Adam H. Bauer
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  2. Jeff Bonham
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  3. Luis Gutierrez
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  4. Edward C. Hsiao
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  5. Daria Motamedi
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Corresponding author

Correspondence to Adam H. Bauer.

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Disclosure

Edward C. Hsiao receives clinical research funding from Clementia Pharmaceuticals to support clinical trials in FOP. This does not pose a conflict of interest for this project.

Conflict of interest

The authors declare that they have no conflicts of interest.

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Bauer, A.H., Bonham, J., Gutierrez, L. et al. Fibrodysplasia ossificans progressiva: a current review of imaging findings. Skeletal Radiol 47, 1043–1050 (2018). https://doi.org/10.1007/s00256-018-2889-5

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  • DOI: https://doi.org/10.1007/s00256-018-2889-5

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