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Pediatric Radiology

, Volume 31, Issue 5, pp 307–314 | Cite as

Fibrodysplasia ossificans progressiva

  • S. Mahboubi
  • David L. Glaser
  • Eileen M. Shore
  • Frederick S. Kaplan
Original article

Abstract

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare and disabling genetic disorder of connective tissue. The condition is characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the tendons, ligaments, fasciae, and striated muscles. Fibrodysplasia ossificans progressiva occurs sporadically and is transmitted as a dominant trait with variable expression and complete penetrance. Reproductive fitness is low. There are fewer than 150 known patients with the disorder in the United States. A point prevalence of one affected patient in every 2 million of population has been observed. There is no sexual, racial, or ethnic predilection. The disease presents in early life; its course is unavoidably progressive. Most patients are confined to a wheelchair by the third decade of life and often succumb to pulmonary complications in the 5th/6th decade of life. At present there is no effective prevention or treatment. The recent discovery of overproduction of bone morphogenetic protein-4 in lesional cells and lymphocytic cells of affected patients provides a clue to both the underlying pathophysiology and potential therapy. The FOP gene has recently been mapped to human chromosome 4 q 27–31.

Keywords

Congenital Malformation Heterotopic Ossification Variable Expression Pulmonary Complication Affected Patient 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2001

Authors and Affiliations

  • S. Mahboubi
    • 1
  • David L. Glaser
    • 2
  • Eileen M. Shore
    • 2
  • Frederick S. Kaplan
    • 2
  1. 1.Department of Radiology, The Children's Hospital of Philadelphia, 34th and Civic Center Boulevard, Philadelphia, PA 19104, USA e-mail: mahboubi@email.chop.edu Tel.: + 1-2 15-5 90 25 61 Fax: + 1-2 15-5 90 43 18US
  2. 2.Department of Orthopedic Surgery, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USAUS

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