TY  - JOUR
T1  - Chin-on-Chest Deformity in Patients with Fibrodysplasia Ossificans ProgressivaA Case Series
AU  - Moore, Ryan E.
AU  - Dormans, John P.
AU  - Drummond, Denis S.
AU  - Shore, Eileen M.
AU  - Kaplan, Frederick S.
AU  - Auerbach, Joshua D.
Y1  - 2009/06/01
N1  - 10.2106/JBJS.H.00554
JO  - The Journal of Bone & Joint Surgery
SP  - 1497
EP  - 1502
VL  - 91
IS  - 6
N2  - 
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.

SN  - 0021-9355
M3  - doi: 10.2106/JBJS.H.00554
UR  - http://dx.doi.org/10.2106/JBJS.H.00554
ER  -