hrp0082p2-d2-297 | Bone (1) | ESPE2014

Severe Heterotopic Ossifications in a 10-year-old Boy with PHP1a

Raimann Adalbert , Alexandra Ertl Diana , Riedl Stefan , Schlegel Werner , Haeusler Gabriele

Background: Progressive osseous heteroplasia (POH) is a rare condition characterized by extensive heterotopic ossification (HO) of connective tissues. Associations of HO and Albright hereditary dystrophy (AHO) lead to the identification of GNAS mutations to be causative for ectopic none formations. The highly imprinted GNAS locus is known to cause a broad spectrum of pathologic conditions, including pseudohypoparathyrodism (PHP), pseudoPHP AHO. While PHP is caused by maternal ...