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Title: Progressive pseudorheumatoid dysplasia: report of a patient with symptoms present at birth
Authors: Van Buggenhout, Griet ×
De Smet, Luc
Maroteaux, P
Fryns, Jean-Pierre #
Issue Date: Jan-1998
Series Title: Genetic Counseling vol:9 issue:4 pages:277-81
Abstract: Progressive pseudorheumatoid dysplasia (spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDTPA) or progressive pseudorheumatoid arthropathy of childhood (PPAC) (MIM 208.230)) is an autosomal recessively inherited skeletal dysplasia with changes in the spine similar to spondyloepiphyseal dysplasia tarda. The disease begins mostly between the ages of 2 to 8 years with progressive joint stiffness and pain, soft tissue swelling and deformities of multiple joints including the proximal interphalangeal joints of the hands. We describe a patient where a symmetric rhizomelic shortening of the extremities and a bilateral severe pes equinovarus was present at birth.
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Research Group for Musculoskeletal Rehabilitation
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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