A Rare Skeletal Dysplasia-Close Mimicker Of Juvenile Idiopathic Arthritis-Progressive Pseudorheumatoid Dysplasia

pubmed: wnt1 2023-03-17


Progressive pseudorheumatoid dysplasia or spondyloepiphyseal dysplasia tarda is caused by a mutation in Wnt1 inducible signalling pathway protein 3 (WISP3) and passes in an autosomal recessive manner. Prevalence underestimated as one per million and most of the cases remain undiagnosed or treated as Juvenile Idiopathic Arthritis (JIA). Differentiation between JIA and PPRD is really challenging however, this case is genetically confirmed from our country. 7-year-old, short stature boy, with...



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Exome ยป pubmed: wnt1



Maira Riaz, Zubair Khoso, Versha Rani Rai, Misbah Iqbal Hanif, Mohsina Noor Ibrahim, Syed Jamal Raza

Date tagged:

03/17/2023, 11:16

Date published:

12/23/2022, 06:00