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Article

Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia.

Cold Spring Harbor molecular case studies - 1 Feb 2018

Alawbathani Salem, Kawalia Amit, Karakaya Mert, Altmüller Janine, Nürnberg Peter, Cirak Sebahattin

Abstract excerpt

Rare diseases are often misdiagnosed or receive a delayed diagnosis; thus, unfortunately, affected individuals may not receive optimal medical management. Here, we report a case of two siblings with a severe phenotype of progressive pseudorheumatoid dysplasia (PPD). Their onset of symptoms began at the age of 3 yr. Both were neglected in the past, and the patients presented with a very severe phenotype and...

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PMID: 29258992
DOI: 10.1101/mcs.a002139
PMCID: PMC5793772

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