Fibrous dysplasia, polyostotic

Definition:

Polyostotic fibrous dysplasia is a condition of subcutaneous ossification associated with short stature, round face and brachydactyly. Mosaic GNAS mutations that results in abnormal differentiation of osteoblastic cells are responsible for the condition.

References:

[1]. Chantal Job-Deslandre, et al. Inherited ossifying diseases. Joint Bone Spine. 2004 Mar;71(2):98-101. [Content Brief]

[2]. Eileen M Shore, et al. Inherited human diseases of heterotopic bone formation. Nat Rev Rheumatol. 2010 Sep;6(9):518-27. [Content Brief]

[3]. Roland D Chapurlat, et al. Fibrous dysplasia of bone and McCune-Albright syndrome. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):55-69. [Content Brief]

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