Genetic Counseling

Publication date: 1998-01
Pages: 277 - 81
ISSN: 1015-8146 PMID: 9894165
Publisher: Editions Medecine et Hygiene


Van Buggenhout, Griet
De Smet, Luc ; Maroteaux, P ; Fryns, Jean-Pierre


Adolescent, Arthritis, Juvenile Rheumatoid, Child, Child, Preschool, Ectromelia, Follow-Up Studies, Humans, Infant, Infant, Newborn, Male, Osteochondrodysplasias, Science & Technology, Life Sciences & Biomedicine, Biotechnology & Applied Microbiology, Genetics & Heredity, Medical Ethics, Medicine, Research & Experimental, Research & Experimental Medicine, progressive pseudorheumatoid dysplasia, spondyloepiphyseal dysplasia tarda, patella, CHILDHOOD PPAC, RHEUMATOID-ARTHRITIS, ARTHROPATHY, DISORDER, TARDA, OSTEOCHONDRODYSPLASIAS, Arthritis, Juvenile, 2203 Philosophy


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.