The carniofacial phenotype of fibrodysplasia ossificans progressiva

  • Frederick S. Kaplan
  • Dylan Hume
  • Anders Westermark
  • Eileen M. Shore
Fibrodysplasia Ossificans Progressiva

Abstract

Patients with fibrodysplasia ossificans progressiva (FOP) develop a craniofacial phenotype characterized most notably by mandibular hypoplasia. Other less well-defined features of FOP include invol vement of the joints, muscles, and associated fascia of the head and neck. Although absent at birth, the craniofacial phnotype generally emerges during the second decade of life. The cranofacial features of FOP may provide important insight into underlying molecular signaling pathways involved in the pathogenesis of the disease.

Key Words

Fibrodysplasia ossificans progressiva (FOP) craniofacial BMP4 

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Copyright information

© Humana Press Inc. 2005

Authors and Affiliations

  • Frederick S. Kaplan
    • 5
    • 1
    • 3
  • Dylan Hume
    • 3
  • Anders Westermark
    • 4
  • Eileen M. Shore
    • 5
    • 2
    • 3
  1. 1.Department of MedicineThe University of Pennsylvania School of MedicinePhiladelphia
  2. 2.Department of GeneticsThe University of Pennsylvania School of MedicinePhiladelphia
  3. 3.The Center for Research in FOP and Related DisondersThe University of Pennsylvania School of MedicinePhiladelphia
  4. 4.Department of Maxillofacial SurgeryKarolinska University HospitalStockholmSweden
  5. 5.Deparment of Orthopaedic SurgeryThe University of Pennsylvania School of MedicinePhiladelphia

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