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Case Reports   |    
Chin-on-Chest Deformity in Patients with Fibrodysplasia Ossificans ProgressivaA Case Series
Ryan E. Moore, MD, PhD1; John P. Dormans, MD2; Denis S. Drummond, MD2; Eileen M. Shore, PhD3; Frederick S. Kaplan, MD3; Joshua D. Auerbach, MD1
1 Department of Orthopaedic Surgery, The University of Pennsylvania School of Medicine, Silverstein-2, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104. E-mail address for J.D. Auerbach: auerspine@gmail.com
2 Division of Orthopaedic Surgery, 2nd Floor Wood Building, The Children's Hospital of Philadelphia, Philadelphia, PA 19104
3 Department of Orthopaedic Surgery, The University of Pennsylvania School of Medicine, 424 Stemmler Hall, 36th and Hamilton Walk, Philadelphia, PA 19104
View Disclosures and Other Information
Disclosure: The authors did not receive any outside funding or grants in support of their research for or preparation of this work. Neither they nor a member of their immediate families received payments or other benefits or a commitment or agreement to provide such benefits from a commercial entity. No commercial entity paid or directed, or agreed to pay or direct, any benefits to any research fund, foundation, division, center, clinical practice, or other charitable or nonprofit organization with which the authors, or a member of their immediate families, are affiliated or associated.
Investigation performed at the Department of Orthopaedic Surgery, The University of Pennsylvania, Philadelphia; the Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; and the Department of Orthopaedic Surgery, Washington University School of Medicine, St. Louis, Missouri

The Journal of Bone and Joint Surgery, Inc.
J Bone Joint Surg Am, 2009 Jun 01;91(6):1497-1502. doi: 10.2106/JBJS.H.00554
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Extract

Fibrodysplasia ossificans progressiva is a rare and disabling autosomal dominant disorder of joint malformations and progressive heterotopic ossification1-4 caused by a recurrent missense point mutation in activin receptor IA (ACVR1, also called ALK2), a bone morphogenetic protein (BMP) type-I receptor2,3,5. Joints become permanently ankylosed in positions that drastically impair activities of daily living and even life itself6. Progressive heterotopic ossification usually begins in the first decade of life, typically appearing first in the dorsal, axial, cranial, and proximal regions of the body, and then later in the ventral, appendicular, caudal, and distal regions1-4,7. Lesions are characterized by the rapid appearance of painful, highly vascular fibroproliferative swellings that progress through an endochondral process to form mature ossicles of heterotopic bone3,8. Lesions may develop spontaneously, although falls9, soft-tissue injury2,3,10, mandibular blocks11, intramuscular immunizations12, viral illnesses13, and surgical trauma10 can precipitate new flare-ups resulting in heterotopic ossification.
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    These activities have been planned and implemented in accordance with the Essential Areas and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint sponsorship of the American Academy of Orthopaedic Surgeons and The Journal of Bone and Joint Surgery, Inc. The American Academy of Orthopaedic Surgeons is accredited by the ACCME to provide continuing medical education for physicians.
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