AB1097 Progressive pseudorheumatoid dysplasia (PPRD) in siblings mimicking inflammatory arthropathy
Sign Up to like & getrecommendations! Published in 2018 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2018-eular.4376
Abstract: Background Progressive pseudorheumatoid dysplasia is a rare condition with an incidence of 1 in 1 million. Objectives Keeping in mind rare disorders when dealing with children in rheumatology clinics. Methods A 12 years old girl was… read more here.
Keywords: progressive pseudorheumatoid; inflammatory arthropathy; rheumatology; mimicking inflammatory ... See more keywords
A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2019.00245
Abstract: Background: Progressive pseudorheumatoid dysplasia (PPRD) inherited in an autosomal recessive fashion, is a disabling disease, characterized by platyspondyly, irregularities of the vertebral bodies, narrowing of the intervertebral discs and intraarticular spaces, widening of the epiphysis-metaphysis,… read more here.
Keywords: progressive pseudorheumatoid; novel homozygous; dysplasia pprd; homozygous frameshift ... See more keywords