Progressive pseudorheumatoid skeletal dysplasia presenting with proportionate short stature and positive WISP3 mutation: A case report.

Muhammad Fasih Mansuri, Muhammad Ashfaq Sindhu, Marya Hameed, Muhammad Nasir Javed, Kanwal Laique, Syed Shariq Ullah


Progressive pseudorheumatoid dysplasia (PPD) is a genetic non-inflammatory arthropathy, known to transmit in a recessive pattern is caused by a mutation in the WISP3 (Wnt1-inducible signal pathway) gene. It is a highly debilitating multi-joint disease that presents with a disproportionate short stature, usually affecting children between 3 to 8 years of age. PPD is diagnosed clinically along with imaging but confirmed with the help of precise genetic analysis. It is a rare disease with an approximate incidence of 1/1,000,000 in the UK but a bit higher in the Middle East and Asian region. The case reports regarding PPD in Pakistan are very scarce. It is usually very rare for PPD to present with a proportionate short stature which we have reported. It is the first case from Pakistan to be confirmed through genetic analysis and will further pave the way for clinicians to use this tool for confirming the diagnosis.

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