The carniofacial phenotype of fibrodysplasia ossificans progressiva

Authors: Kaplan, Frederick¹; Hume, Dylan²; Westermark, Anders³; Shore, Eileen⁴

Source: Clinical Review in Bone and Mineral Metabolism, Volume 3, Numbers 3-4, September 2005 , pp. 209-212(4)

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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.

Keywords: Fibrodysplasia ossificans progressiva (FOP); craniofacial; BMP4

Document Type: Research article

DOI: http://dx.doi.org/10.1385/BMM:3:3-4:209

Affiliations: 1: Deparment of Orthopaedic Surgery, The University of Pennsylvania School of Medicine, Silverstein Two, 3400 Spruce St., 19104, Philadelphia, PA, Email: frederick.kaplan@uphs.upenn.edu 2: The Center for Research in FOP and Related Disonders, The University of Pennsylvania School of Medicine, Philadelphia, PA, 3: Department of Maxillofacial Surgery, Karolinska University Hospital, Stockholm, Sweden, 4: Deparment of Orthopaedic Surgery, The University of Pennsylvania School of Medicine, Silverstein Two, 3400 Spruce St., 19104, Philadelphia, PA,

Publication date: 2005-09-01