Progressive pseudorheumatoid dysplasia: radiographic evolution over 20 years

Progressive pseudorheumatoid dysplasia (PPRD) is a rare skeletal dysplasia with autosomal recessive inheritance, caused by loss of function mutations of the Wnt1- inducible signalling pathway protein 3 (WISP3) (1, 2). We present the radiographic evolution of PPRD in a female patient complaining of joint stiffness and pain since early childhood and originally misdiagnosed with juvenile idiopathic arthritis. Molecular genetic testing confirmed PPRD in 1999 when the patient was 34 years old.